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NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 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:
RCV004454640.1

Allele description [Variation Report for NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly)]

NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly)

Gene:
RSRC1:arginine and serine rich coiled-coil 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.32
Genomic location:
Preferred name:
NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly)
HGVS:
  • NC_000003.12:g.158460988A>G
  • NM_001271834.2:c.463A>G
  • NM_001271838.2:c.637A>GMANE SELECT
  • NM_016625.4:c.637A>G
  • NP_001258763.1:p.Arg155Gly
  • NP_001258767.1:p.Arg213Gly
  • NP_057709.2:p.Arg213Gly
  • NC_000003.11:g.158178777A>G
  • NM_016625.2:c.637A>G
Protein change:
R155G
Molecular consequence:
  • NM_001271834.2:c.463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271838.2:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016625.4:c.637A>G - 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
SCV005013847Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 26, 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, SCV005013847.1

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

Description

The c.637A>G (p.R213G) alteration is located in exon 7 (coding exon 6) of the RSRC1 gene. This alteration results from a A to G substitution at nucleotide position 637, causing the arginine (R) at amino acid position 213 to be replaced by a glycine (G). 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 7, 2024