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NM_001680.5(FXYD2):c.55T>C (p.Phe19Leu) 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:
RCV002542106.2

Allele description [Variation Report for NM_001680.5(FXYD2):c.55T>C (p.Phe19Leu)]

NM_001680.5(FXYD2):c.55T>C (p.Phe19Leu)

Genes:
FXYD2:FXYD domain containing ion transport regulator 2 [Gene - OMIM - HGNC]
FXYD6-FXYD2:FXYD6-FXYD2 readthrough [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001680.5(FXYD2):c.55T>C (p.Phe19Leu)
HGVS:
  • NC_000011.10:g.117822688A>G
  • NG_011543.1:g.10405T>C
  • NG_124111.1:g.521A>G
  • NM_001204268.3:c.289T>C
  • NM_001243598.4:c.302T>C
  • NM_001680.5:c.55T>CMANE SELECT
  • NM_021603.4:c.49T>C
  • NP_001191197.1:p.Phe97Leu
  • NP_001230527.1:p.Val101Ala
  • NP_001671.2:p.Phe19Leu
  • NP_067614.1:p.Phe17Leu
  • NC_000011.9:g.117693403A>G
  • NC_000011.9:g.117693403A>G
  • NM_001680.4:c.55T>C
Protein change:
F17L
Links:
dbSNP: rs150608549
NCBI 1000 Genomes Browser:
rs150608549
Molecular consequence:
  • NM_001204268.3:c.289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243598.4:c.302T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001680.5:c.55T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021603.4:c.49T>C - 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
SCV003633954Ambry 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, SCV003633954.2

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

Description

The c.55T>C (p.F19L) alteration is located in exon 2 (coding exon 2) of the FXYD2 gene. This alteration results from a T to C substitution at nucleotide position 55, causing the phenylalanine (F) at amino acid position 19 to be replaced by a leucine (L). 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: Sep 29, 2024