chr11:534242:A>G Detail (hg38) (HRAS, LRRC56)

Information

Genome

Assembly Position
hg19 chr11:534,242-534,242 View the variant detail on this assembly version.
hg38 chr11:534,242-534,242

HGVS

Type Transcript Protein
RefSeq NM_001130442.2:c.81T>C NP_001123914.1:p.His27=
NM_005343.3:c.81T>C NP_005334.1:p.His27=
NM_001318054.1:c.81T>C NP_001304983.1:p.His27=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.165
ToMMo:0.167
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.189

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 190020 OMIM
HGNC 5173 HGNC
Ensembl ENSG00000174775 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41265703 TogoVar
COSMIC COSM249860 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-02-14 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2017-04-03 reviewed by expert panel RASopathy germline unknown Detail
Benign 2023-11-30 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations Costello syndrome germline Detail
Likely benign 2020-05-05 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Benign 2021-07-08 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Benign 2018-12-04 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Malignant neoplasm of thyroid Lack of mutational events of RAS genes in sporadic thyroid cancer but high risk ... BeFree 23150177 Detail
0.011 Malignant neoplasm of urinary bladder HRAS T81C polymorphism modulates risk of urinary bladder cancer and predicts adv... BeFree 21514184 Detail
0.010 Carcinoma of bladder HRAS T81C polymorphism modulates risk of urinary bladder cancer and predicts adv... BeFree 21514184 Detail
<0.001 Follicular neoplasm Contrary to this HRAS T81C SNP of HRAS gene moderately increases thyroid cancer ... BeFree 23150177 Detail
0.004 Thyroid carcinoma Lack of mutational events of RAS genes in sporadic thyroid cancer but high risk ... BeFree 23150177 Detail
0.125 Bladder Neoplasm It is evident from our study that HRAS T81C SNP moderately increases bladder can... BeFree 21514184 Detail
0.006 melanoma Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of ... BeFree 22618666 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005343.4(HRAS):c.81T>C (p.His27=) AND not specified ClinVar Detail
NM_005343.4(HRAS):c.81T>C (p.His27=) AND RASopathy ClinVar Detail
NM_005343.4(HRAS):c.81T>C (p.His27=) AND not provided ClinVar Detail
NM_005343.4(HRAS):c.81T>C (p.His27=) AND Costello syndrome ClinVar Detail
NM_005343.4(HRAS):c.81T>C (p.His27=) AND Squamous cell lung carcinoma ClinVar Detail
NM_005343.4(HRAS):c.81T>C (p.His27=) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_005343.4(HRAS):c.81T>C (p.His27=) AND Cardiovascular phenotype ClinVar Detail
Lack of mutational events of RAS genes in sporadic thyroid cancer but high risk associated with HRAS... DisGeNET Detail
HRAS T81C polymorphism modulates risk of urinary bladder cancer and predicts advanced tumors in ethn... DisGeNET Detail
HRAS T81C polymorphism modulates risk of urinary bladder cancer and predicts advanced tumors in ethn... DisGeNET Detail
Contrary to this HRAS T81C SNP of HRAS gene moderately increases thyroid cancer risk with rare allel... DisGeNET Detail
Lack of mutational events of RAS genes in sporadic thyroid cancer but high risk associated with HRAS... DisGeNET Detail
It is evident from our study that HRAS T81C SNP moderately increases bladder cancer risk, and rare a... DisGeNET Detail
Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of melanoma in the Nort... 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
rs12628 dbSNP
Genome
hg38
Position
chr11:534,242-534,242
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1188
Mean of sample read depth (HGVD)
61.67
Standard deviation of sample read depth (HGVD)
29.45
Number of reference allele (HGVD)
1985
Number of alternative allele (HGVD)
391
Allele Frequency (HGVD)
0.16456228956228955
Gene Symbol (HGVD)
HRAS
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs12628
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.167
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2799
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
1632
East Asian Heterozygous Counts (ExAC)
1338
East Asian Homozygous Counts (ExAC)
147
East Asian Allele Frequency (ExAC)
0.18932714617169374
Chromosome Counts in All Race (ExAC)
120394
Allele Counts in All Race (ExAC)
37746
Heterozygous Counts in All Race (ExAC)
25432
Homozygous Counts in All Race (ExAC)
6157
Allele Frequency in All Race (ExAC)
0.3135206073392362
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