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NM_001002901.4(FCRLB):c.1001C>G (p.Thr334Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 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:
RCV004268698.1

Allele description [Variation Report for NM_001002901.4(FCRLB):c.1001C>G (p.Thr334Ser)]

NM_001002901.4(FCRLB):c.1001C>G (p.Thr334Ser)

Gene:
FCRLB:Fc receptor like B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_001002901.4(FCRLB):c.1001C>G (p.Thr334Ser)
HGVS:
  • NC_000001.11:g.161727382C>G
  • NM_001002901.4:c.1001C>GMANE SELECT
  • NM_001288829.1:c.856C>G
  • NM_001288830.1:c.835C>G
  • NM_001288831.1:c.*69C>G
  • NM_001288832.1:c.*69C>G
  • NM_001320241.1:c.1001C>G
  • NP_001002901.1:p.Thr334Ser
  • NP_001275758.1:p.Pro286Ala
  • NP_001275759.1:p.Pro279Ala
  • NP_001307170.1:p.Thr334Ser
  • NC_000001.10:g.161697172C>G
  • NM_001002901.2:c.1001C>G
Protein change:
P279A
Molecular consequence:
  • NM_001288831.1:c.*69C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001288832.1:c.*69C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001002901.4:c.1001C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288829.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288830.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320241.1:c.1001C>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
SCV003881477Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 10, 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, SCV003881477.2

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

Description

The c.1001C>G (p.T334S) alteration is located in exon 6 (coding exon 6) of the FCRLB gene. This alteration results from a C to G substitution at nucleotide position 1001, causing the threonine (T) at amino acid position 334 to be replaced by a serine (S). 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 3, 2024