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NM_001001479.4(SLC35E4):c.53T>C (p.Val18Ala) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 13, 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:
RCV004459290.1

Allele description [Variation Report for NM_001001479.4(SLC35E4):c.53T>C (p.Val18Ala)]

NM_001001479.4(SLC35E4):c.53T>C (p.Val18Ala)

Gene:
SLC35E4:solute carrier family 35 member E4 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_001001479.4(SLC35E4):c.53T>C (p.Val18Ala)
HGVS:
  • NC_000022.11:g.30636503T>C
  • NM_001001479.4:c.53T>CMANE SELECT
  • NM_001318370.2:c.53T>C
  • NM_001318371.2:c.53T>C
  • NP_001001479.1:p.Val18Ala
  • NP_001305299.1:p.Val18Ala
  • NP_001305300.1:p.Val18Ala
  • NC_000022.10:g.31032490T>C
  • NM_001001479.2:c.53T>C
Protein change:
V18A
Molecular consequence:
  • NM_001001479.4:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318370.2:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318371.2:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004951990Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 13, 2023) 		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, SCV004951990.1

#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: May 7, 2024