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NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 11, 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:
RCV002372505.2

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)]

NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)

Gene:
SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
HGVS:
  • NC_000011.10:g.119025979A>G
  • NG_013331.1:g.9927T>C
  • NM_001164277.2:c.972T>CMANE SELECT
  • NM_001164278.2:c.972T>C
  • NM_001164279.2:c.753T>C
  • NM_001164280.2:c.972T>C
  • NM_001467.6:c.972T>C
  • NP_001157749.1:p.Ser324=
  • NP_001157749.1:p.Ser324=
  • NP_001157750.1:p.Ser324=
  • NP_001157751.1:p.Ser251=
  • NP_001157752.1:p.Ser324=
  • NP_001458.1:p.Ser324=
  • LRG_187t1:c.972T>C
  • LRG_187:g.9927T>C
  • LRG_187p1:p.Ser324=
  • NC_000011.9:g.118896689A>G
  • NM_001164277.1:c.972T>C
  • NM_001164277.2:c.972T>C
  • NM_001467.5:c.972T>C
Links:
dbSNP: rs781824710
NCBI 1000 Genomes Browser:
rs781824710
Molecular consequence:
  • NM_001164277.2:c.972T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164278.2:c.972T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164279.2:c.753T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164280.2:c.972T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001467.6:c.972T>C - 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
SCV002692248Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 11, 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, SCV002692248.2

#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