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NM_079834.4(SCAMP4):c.478G>A (p.Val160Met) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 30, 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:
RCV004105551.1

Allele description [Variation Report for NM_079834.4(SCAMP4):c.478G>A (p.Val160Met)]

NM_079834.4(SCAMP4):c.478G>A (p.Val160Met)

Gene:
SCAMP4:secretory carrier membrane protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_079834.4(SCAMP4):c.478G>A (p.Val160Met)
HGVS:
  • NC_000019.10:g.1923152G>A
  • NM_001329539.2:c.346G>A
  • NM_001329540.2:c.376G>A
  • NM_079834.4:c.478G>AMANE SELECT
  • NP_001316468.1:p.Val116Met
  • NP_001316469.1:p.Val126Met
  • NP_524558.1:p.Val160Met
  • NC_000019.9:g.1923151G>A
  • NM_079834.2:c.478G>A
Protein change:
V116M
Molecular consequence:
  • NM_001329539.2:c.346G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329540.2:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_079834.4:c.478G>A - 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
SCV003570734Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 30, 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, SCV003570734.2

#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: Nov 10, 2024