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NM_001382430.1(AKT1):c.1194C>T (p.Asp398=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 12, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002341444.2

Allele description [Variation Report for NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)]

NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)

Gene:
AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)
HGVS:
  • NC_000014.9:g.104772431G>A
  • NG_012188.1:g.28314C>T
  • NM_001014431.2:c.1194C>T
  • NM_001014432.2:c.1194C>T
  • NM_001382430.1:c.1194C>TMANE SELECT
  • NM_001382431.1:c.1194C>T
  • NM_001382432.1:c.1194C>T
  • NM_001382433.1:c.1194C>T
  • NM_005163.2:c.1194C>T
  • NP_001014431.1:p.Asp398=
  • NP_001014432.1:p.Asp398=
  • NP_001369359.1:p.Asp398=
  • NP_001369360.1:p.Asp398=
  • NP_001369361.1:p.Asp398=
  • NP_001369362.1:p.Asp398=
  • NP_005154.2:p.Asp398=
  • LRG_721t2:c.1194C>T
  • LRG_721:g.28314C>T
  • LRG_721p2:p.Asp398=
  • NC_000014.8:g.105238768G>A
  • NM_001014431.1:c.1194C>T
Links:
dbSNP: rs151254374
NCBI 1000 Genomes Browser:
rs151254374
Molecular consequence:
  • NM_001014431.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001014432.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382430.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382431.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382432.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382433.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005163.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002641321Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002641321.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024