NM_001680.5(FXYD2):c.55T>C (p.Phe19Leu) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 22, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000909383.7

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001054184Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 22, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005211633Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benigngermlinenot provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001054184.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005211633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024