NM_003073.5(SMARCB1):c.1145C>T (p.Ala382Val) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 16, 2023
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:: RCV003769499.1

Allele description

NM_003073.5(SMARCB1):c.1145C>T (p.Ala382Val)

Gene:

SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

Preferred name:

NM_003073.5(SMARCB1):c.1145C>T (p.Ala382Val)

HGVS:

NC_000022.11:g.23834167C>T
NG_009303.1:g.52205C>T
NM_001007468.3:c.1118C>T
NM_001317946.2:c.1172C>T
NM_001362877.2:c.1199C>T
NM_003073.5:c.1145C>TMANE SELECT
NP_001007469.1:p.Ala373Val
NP_001304875.1:p.Ala391Val
NP_001349806.1:p.Ala400Val
NP_003064.2:p.Ala382Val
LRG_520t1:c.1145C>T
LRG_520:g.52205C>T
NC_000022.10:g.24176354C>T
NC_000022.10:g.24176354C>T
NM_003073.3:c.1145C>T

Protein change:

A373V

Links:

dbSNP: rs756129754

NCBI 1000 Genomes Browser:

rs756129754

Molecular consequence:

NM_001007468.3:c.1118C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001317946.2:c.1172C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001362877.2:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003073.5:c.1145C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004666441	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 16, 2023)	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

SCV004666441

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 16, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004666441.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 822249). This variant has not been reported in the literature in individuals affected with SMARCB1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 382 of the SMARCB1 protein (p.Ala382Val).

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

Last Updated: May 1, 2024

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