chr14:105243048:G>T Detail (hg19) (AKT1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr14:105,243,048-105,243,048
hg38	chr14:104,776,711-104,776,711 View the variant detail on this assembly version.

HGVS

AKT1

Type	Transcript	Protein
RefSeq	NM_001014432.1:c.235C>A	NP_001014432.1:p.Gln79Lys
	NM_001014431.1:c.235C>A	NP_001014431.1:p.Gln79Lys
	NM_005163.2:c.235C>A	NP_005154.2:p.Gln79Lys
Ensemble	ENST00000349310.7:c.235C>A	ENST00000349310.7:p.Gln79Lys
	ENST00000554192.6:c.235C>A	ENST00000554192.6:p.Gln79Lys
	ENST00000554581.5:c.235C>A	ENST00000554581.5:p.Gln79Lys
	ENST00000402615.6:c.235C>A	ENST00000402615.6:p.Gln79Lys
	ENST00000554848.5:c.235C>A	ENST00000554848.5:p.Gln79Lys
	ENST00000407796.7:c.235C>A	ENST00000407796.7:p.Gln79Lys
	ENST00000553797.2:c.235C>A	ENST00000553797.2:p.Gln79Lys
	ENST00000555458.6:c.235C>A	ENST00000555458.6:p.Gln79Lys
	ENST00000555528.5:c.235C>A	ENST00000555528.5:p.Gln79Lys
	ENST00000649815.2:c.235C>A	ENST00000649815.2:p.Gln79Lys
	ENST00000683722.1:c.235C>A	ENST00000683722.1:p.Gln79Lys
	ENST00000714123.1:c.235C>A	ENST00000714123.1:p.Gln79Lys
	ENST00000714130.1:c.235C>A	ENST00000714130.1:p.Gln79Lys

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

AKT1

Type	Database	ID	Link
Gene	MIM	164730	OMIM
	HGNC	391	HGNC
	Ensembl	ENSG00000142208	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM159008	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2014-12-26	no assertion criteria provided	melanoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
melanoma	Vemurafenib	D	Predictive	Supports	Resistance	Somatic	4	24265152	Detail
melanoma	Vemurafenib	D	Predictive	Supports	Resistance	Somatic		24265155	Detail
melanoma	Dabrafenib	C	Predictive	Supports	Resistance	Somatic	4	24265155	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
The AKT1 Q79K mutation has been shown to confer resistance to BRAF inhibitors (vemurafenib) in melan...	CIViC Evidence	Detail
In an in vitro study, a M229 cell line endogenously expressing BRAF V600E mutation (a known vemurafe...	CIViC Evidence	Detail
In a retrospective study of 44 relapsed melanoma patients with BRAF V600E/K (known BRAF inhibitor se...	CIViC Evidence	Detail
NM_001382430.1(AKT1):c.235C>A (p.Gln79Lys) AND Melanoma	ClinVar	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: rs1057519804 dbSNP
Genome: hg19
Position: chr14:105,243,048-105,243,048
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): Q79K
Transcript 1 (CIViC Variant): ENST00000407796.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/169

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