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NM_001385641.1(SAMD11):c.2078A>T (p.Asp693Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 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:
RCV002033488.3

Allele description [Variation Report for NM_001385641.1(SAMD11):c.2078A>T (p.Asp693Val)]

NM_001385641.1(SAMD11):c.2078A>T (p.Asp693Val)

Genes:
LOC129929063:ATAC-STARR-seq lymphoblastoid active region 4 [Gene]
SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_001385641.1(SAMD11):c.2078A>T (p.Asp693Val)
HGVS:
  • NC_000001.11:g.943277A>T
  • NM_001385640.1:c.2081A>T
  • NM_001385641.1:c.2078A>TMANE SELECT
  • NM_152486.4:c.1589A>T
  • NP_001372569.1:p.Asp694Val
  • NP_001372570.1:p.Asp693Val
  • NP_689699.3:p.Asp530Val
  • NC_000001.10:g.878657A>T
Protein change:
D530V
Links:
dbSNP: rs887886599
NCBI 1000 Genomes Browser:
rs887886599
Molecular consequence:
  • NM_001385640.1:c.2081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385641.1:c.2078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152486.4:c.1589A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002275558Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 12, 2022) 		germlineclinical testing

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

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Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002275558.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 530 of the SAMD11 protein (p.Asp530Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SAMD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1487212). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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

Last Updated: Sep 29, 2024