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NM_000171.4(GLRA1):c.1193C>G (p.Ser398Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 2023
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:
RCV003370739.2

Allele description [Variation Report for NM_000171.4(GLRA1):c.1193C>G (p.Ser398Cys)]

NM_000171.4(GLRA1):c.1193C>G (p.Ser398Cys)

Gene:
GLRA1:glycine receptor alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.1
Genomic location:
Preferred name:
NM_000171.4(GLRA1):c.1193C>G (p.Ser398Cys)
HGVS:
  • NC_000005.10:g.151822830G>C
  • NG_011764.1:g.107007C>G
  • NM_000171.4:c.1193C>GMANE SELECT
  • NM_001146040.2:c.1217C>G
  • NM_001292000.2:c.944C>G
  • NP_000162.2:p.Ser398Cys
  • NP_001139512.1:p.Ser406Cys
  • NP_001278929.1:p.Ser315Cys
  • NC_000005.9:g.151202391G>C
  • NM_000171.3:c.1193C>G
Protein change:
S315C
Molecular consequence:
  • NM_000171.4:c.1193C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146040.2:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292000.2:c.944C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004061992Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 12, 2023) 		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, SCV004061992.2

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

Description

The c.1193C>G (p.S398C) alteration is located in exon 9 (coding exon 9) of the GLRA1 gene. This alteration results from a C to G substitution at nucleotide position 1193, causing the serine (S) at amino acid position 398 to be replaced by a cysteine (C). 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