NM_000474.4(TWIST1):c.152G>T (p.Gly51Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 3, 2020
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:: RCV002254445.2

Allele description [Variation Report for NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)]

NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)

Gene:

TWIST1:twist family bHLH transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p21.1

Genomic location:

Preferred name:

NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)

HGVS:

NC_000007.14:g.19117170C>A
NG_008114.2:g.5503G>T
NM_000474.4:c.152G>TMANE SELECT
NP_000465.1:p.Gly51Val
NC_000007.13:g.19156793C>A
NM_000474.3:c.152G>T
NR_149001.2:n.467G>T

Protein change:

G51V

Links:

dbSNP: rs1305059157

NCBI 1000 Genomes Browser:

rs1305059157

Molecular consequence:

NM_000474.4:c.152G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_149001.2:n.467G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002525619	Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 3, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002525619

Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 3, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002525619.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.152G>T (p.Gly51Val) variant in the TWIST1 gene has been observed as a heterozygous variant in 17 individuals from the Trans-Omics for Precision Medicine (TOPMed) database ( https://bravo.sph.umich.edu/freeze8/hg38/variant/snv/7-19117170-C-A). Further phenotypic information from this diverse study cohort was not available (https://www.nhlbiwgs.org/). This variant has not been reported in the medical literature, ClinVar, nor Genome Aggregation databases. The c.152G>T variant is predicted to substitute the glycine at codon 51 with valine (p.Gly51Val). In silico tools have conflicting predictions about the possible impact of this change on protein function, varying from damaging to tolerated. A different missense change at the same amino acid position (p.Gly51Glu) has been interpreted as a VUS by another clinical laboratory.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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