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NM_022041.4(GAN):c.355A>T (p.Thr119Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 13, 2020
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:
RCV002455949.9

Allele description [Variation Report for NM_022041.4(GAN):c.355A>T (p.Thr119Ser)]

NM_022041.4(GAN):c.355A>T (p.Thr119Ser)

Gene:
GAN:gigaxonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_022041.4(GAN):c.355A>T (p.Thr119Ser)
HGVS:
  • NC_000016.10:g.81354477A>T
  • NG_009007.1:g.44512A>T
  • NM_001377486.1:c.-285A>T
  • NM_022041.4:c.355A>TMANE SELECT
  • NP_071324.1:p.Thr119Ser
  • NP_071324.1:p.Thr119Ser
  • LRG_242t1:c.355A>T
  • LRG_242:g.44512A>T
  • LRG_242p1:p.Thr119Ser
  • NC_000016.9:g.81388082A>T
  • NM_022041.3:c.355A>T
  • p.Thr119Ser
Protein change:
T119S
Links:
dbSNP: rs141396595
NCBI 1000 Genomes Browser:
rs141396595
Molecular consequence:
  • NM_001377486.1:c.-285A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022041.4:c.355A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002617350Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 13, 2020) 		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, SCV002617350.2

#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