chr13:102875448:G>A Detail (hg38) (ERCC5, BIVM-ERCC5)

Information

Genome

Assembly Position
hg19 chr13:103,527,798-103,527,798 View the variant detail on this assembly version.
hg38 chr13:102,875,448-102,875,448

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000639132.1:c.3781G>A ENST00000639132.1:p.Ala1261Thr
ENST00000639435.1:c.4468G>A ENST00000639435.1:p.Ala1490Thr
Type Transcript Protein
RefSeq
Ensemble ENST00000652225.2:c.3106G>A ENST00000652225.2:p.Ala1036Thr
ENST00000652613.1:c.2602G>A ENST00000652613.1:p.Ala868Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 43690 HGNC
Ensembl ENSG00000270181 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv385809417 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 133530 OMIM
HGNC 3437 HGNC
Ensembl ENSG00000134899 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv385809417 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-09-17 criteria provided, single submitter not specified germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter Xeroderma pigmentosum, group G germline Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2021-09-18 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.085 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.008 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.015 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.011 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.009 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.019 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.001 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.004 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.018 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.023 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.013 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.098 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND not specified ClinVar Detail
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND Xeroderma pigmentosum, group G ClinVar Detail
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND not provided ClinVar Detail
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs144208043 dbSNP
Genome
hg38
Position
chr13:102,875,448-102,875,448
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121340
Allele Counts in All Race (ExAC)
86
Heterozygous Counts in All Race (ExAC)
86
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.087522663589913E-4
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