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NM_080388.3(S100A16):c.284A>G (p.His95Arg) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 27, 2021
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:
RCV004109891.1

Allele description [Variation Report for NM_080388.3(S100A16):c.284A>G (p.His95Arg)]

NM_080388.3(S100A16):c.284A>G (p.His95Arg)

Gene:
S100A16:S100 calcium binding protein A16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_080388.3(S100A16):c.284A>G (p.His95Arg)
HGVS:
  • NC_000001.11:g.153607562T>C
  • NM_001317007.1:c.284A>G
  • NM_001317008.2:c.284A>G
  • NM_080388.3:c.284A>GMANE SELECT
  • NP_001303936.1:p.His95Arg
  • NP_001303937.1:p.His95Arg
  • NP_525127.1:p.His95Arg
  • NC_000001.10:g.153580038T>C
  • NM_080388.1:c.284A>G
  • NR_133645.2:n.522A>G
Protein change:
H95R
Molecular consequence:
  • NM_001317007.1:c.284A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317008.2:c.284A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080388.3:c.284A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133645.2:n.522A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003584721Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 27, 2021) 		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, SCV003584721.2

#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