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NM_001004310.3(FCRL6):c.617G>A (p.Arg206His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 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:
RCV004293152.1

Allele description [Variation Report for NM_001004310.3(FCRL6):c.617G>A (p.Arg206His)]

NM_001004310.3(FCRL6):c.617G>A (p.Arg206His)

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.617G>A (p.Arg206His)
HGVS:
  • NC_000001.11:g.159809414G>A
  • NM_001004310.3:c.617G>AMANE SELECT
  • NM_001284217.2:c.638G>A
  • NP_001004310.2:p.Arg206His
  • NP_001271146.1:p.Arg213His
  • NC_000001.10:g.159779204G>A
  • NM_001004310.2:c.617G>A
Protein change:
R206H
Molecular consequence:
  • NM_001004310.3:c.617G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284217.2:c.638G>A - 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
SCV003937757Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 18, 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, SCV003937757.2

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

Description

The c.617G>A (p.R206H) alteration is located in exon 5 (coding exon 5) of the FCRL6 gene. This alteration results from a G to A substitution at nucleotide position 617, causing the arginine (R) at amino acid position 206 to be replaced by a histidine (H). 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