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NM_152494.4(DCST1):c.1094G>A (p.Arg365His) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 6, 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:
RCV004080187.1

Allele description [Variation Report for NM_152494.4(DCST1):c.1094G>A (p.Arg365His)]

NM_152494.4(DCST1):c.1094G>A (p.Arg365His)

Gene:
DCST1:DC-STAMP domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_152494.4(DCST1):c.1094G>A (p.Arg365His)
HGVS:
  • NC_000001.11:g.155043431G>A
  • NG_027536.1:g.14626G>A
  • NM_001143687.2:c.1019G>A
  • NM_152494.4:c.1094G>AMANE SELECT
  • NP_001137159.1:p.Arg340His
  • NP_689707.2:p.Arg365His
  • NC_000001.10:g.155015907G>A
  • NM_152494.3:c.1094G>A
Protein change:
R340H
Molecular consequence:
  • NM_001143687.2:c.1019G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152494.4:c.1094G>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
SCV003540844Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 6, 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, SCV003540844.2

#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 3, 2024