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NM_001004310.3(FCRL6):c.247T>G (p.Cys83Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004177655.1

Allele description [Variation Report for NM_001004310.3(FCRL6):c.247T>G (p.Cys83Gly)]

NM_001004310.3(FCRL6):c.247T>G (p.Cys83Gly)

Gene:
FCRL6:Fc receptor like 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.2
Genomic location:
Preferred name:
NM_001004310.3(FCRL6):c.247T>G (p.Cys83Gly)
HGVS:
  • NC_000001.11:g.159808372T>G
  • NM_001004310.3:c.247T>GMANE SELECT
  • NM_001284217.2:c.268T>G
  • NP_001004310.2:p.Cys83Gly
  • NP_001271146.1:p.Cys90Gly
  • NC_000001.10:g.159778162T>G
  • NM_001004310.2:c.247T>G
Protein change:
C83G
Molecular consequence:
  • NM_001004310.3:c.247T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284217.2:c.268T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003666623Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 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, SCV003666623.2

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

Description

The c.247T>G (p.C83G) alteration is located in exon 3 (coding exon 3) of the FCRL6 gene. This alteration results from a T to G substitution at nucleotide position 247, causing the cysteine (C) at amino acid position 83 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: Nov 10, 2024