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NM_022041.4(GAN):c.523C>T (p.Pro175Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 31, 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:
RCV002813169.2

Allele description [Variation Report for NM_022041.4(GAN):c.523C>T (p.Pro175Ser)]

NM_022041.4(GAN):c.523C>T (p.Pro175Ser)

Gene:
GAN:gigaxonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_022041.4(GAN):c.523C>T (p.Pro175Ser)
HGVS:
  • NC_000016.10:g.81354645C>T
  • NG_009007.1:g.44680C>T
  • NM_001377486.1:c.-117C>T
  • NM_022041.4:c.523C>TMANE SELECT
  • NP_071324.1:p.Pro175Ser
  • NP_071324.1:p.Pro175Ser
  • LRG_242t1:c.523C>T
  • LRG_242:g.44680C>T
  • LRG_242p1:p.Pro175Ser
  • NC_000016.9:g.81388250C>T
  • NM_022041.3:c.523C>T
Protein change:
P175S
Molecular consequence:
  • NM_001377486.1:c.-117C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022041.4:c.523C>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
SCV003602808Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 31, 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, SCV003602808.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.523C>T (p.P175S) alteration is located in exon 3 (coding exon 3) of the GAN gene. This alteration results from a C to T substitution at nucleotide position 523, causing the proline (P) at amino acid position 175 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024