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NM_201653.4(CHIA):c.1426G>A (p.Ala476Thr) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 7, 2024
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:
RCV004610331.1

Allele description [Variation Report for NM_201653.4(CHIA):c.1426G>A (p.Ala476Thr)]

NM_201653.4(CHIA):c.1426G>A (p.Ala476Thr)

Gene:
CHIA:chitinase acidic [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_201653.4(CHIA):c.1426G>A (p.Ala476Thr)
HGVS:
  • NC_000001.11:g.111320461G>A
  • NM_001040623.3:c.943G>A
  • NM_001258001.2:c.1102G>A
  • NM_001258002.2:c.943G>A
  • NM_001258003.2:c.1102G>A
  • NM_001258004.2:c.943G>A
  • NM_001258005.2:c.943G>A
  • NM_021797.4:c.1102G>A
  • NM_201653.4:c.1426G>AMANE SELECT
  • NP_001035713.1:p.Ala315Thr
  • NP_001244930.1:p.Ala368Thr
  • NP_001244931.1:p.Ala315Thr
  • NP_001244932.1:p.Ala368Thr
  • NP_001244933.1:p.Ala315Thr
  • NP_001244934.1:p.Ala315Thr
  • NP_068569.2:p.Ala368Thr
  • NP_970615.2:p.Ala476Thr
  • NC_000001.10:g.111863083G>A
  • NM_201653.2:c.1426G>A
Protein change:
A315T
Molecular consequence:
  • NM_001040623.3:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258001.2:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258002.2:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258003.2:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258004.2:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258005.2:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021797.4:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201653.4:c.1426G>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
SCV005104086Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 7, 2024) 		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, SCV005104086.1

#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: Aug 11, 2024