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NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 7, 2017
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:
RCV000756177.9

Allele description [Variation Report for NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)]

NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)
HGVS:
  • NC_000023.11:g.154352921T>C
  • NG_011506.2:g.26718A>G
  • NM_001110556.2:c.6230A>GMANE SELECT
  • NM_001456.4:c.6206A>G
  • NP_001104026.1:p.Tyr2077Cys
  • NP_001447.2:p.Tyr2069Cys
  • NP_001447.2:p.Tyr2069Cys
  • LRG_1340t1:c.6230A>G
  • LRG_1340:g.26718A>G
  • LRG_1340p1:p.Tyr2077Cys
  • NC_000023.10:g.153581289T>C
  • NM_001456.3:c.6206A>G
Protein change:
Y2069C
Links:
dbSNP: rs781860863
NCBI 1000 Genomes Browser:
rs781860863
Molecular consequence:
  • NM_001110556.2:c.6230A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.6206A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000883904ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Jun 7, 2017) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883904.1

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

Description

The p.Tyr2069Cys variant (rs781860863) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in African populations of 0.016% (identified in 3 out of 13,198 chromosomes, all three of which were found in hemizygous individuals). The tyrosine at codon 2069 is highly conserved considering 10 species up to Tetraodon (Alamut software v2.9), and computational analyses suggest this variant has a significant effect on FLNA protein structure/function (SIFT: damaging, PolyPhen2: possibly damaging, and Mutation Taster: disease causing). However, based on the available information, the clinical significance of the p.Tyr2069Cys variant cannot be determined with certainty.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024