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NM_002927.5(RGS13):c.311C>T (p.Ser104Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 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:
RCV004253568.1

Allele description [Variation Report for NM_002927.5(RGS13):c.311C>T (p.Ser104Leu)]

NM_002927.5(RGS13):c.311C>T (p.Ser104Leu)

Gene:
RGS13:regulator of G protein signaling 13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.2
Genomic location:
Preferred name:
NM_002927.5(RGS13):c.311C>T (p.Ser104Leu)
HGVS:
  • NC_000001.11:g.192659354C>T
  • NM_002927.5:c.311C>TMANE SELECT
  • NM_144766.3:c.311C>T
  • NP_002918.1:p.Ser104Leu
  • NP_658912.1:p.Ser104Leu
  • NC_000001.10:g.192628484C>T
  • NM_002927.4:c.311C>T
Protein change:
S104L
Molecular consequence:
  • NM_002927.5:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144766.3:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003876609Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 6, 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, SCV003876609.2

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

Description

The c.311C>T (p.S104L) alteration is located in exon 7 (coding exon 4) of the RGS13 gene. This alteration results from a C to T substitution at nucleotide position 311, causing the serine (S) at amino acid position 104 to be replaced by a leucine (L). 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: Oct 26, 2024