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NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala) AND Dextrocardia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000754895.2

Allele description [Variation Report for NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala)]

NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala)

Gene:
ZFYVE16:zinc finger FYVE-type containing 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala)
HGVS:
  • NC_000005.10:g.80456525G>C
  • NM_001105251.4:c.3755G>C
  • NM_001284236.3:c.3755G>CMANE SELECT
  • NM_001349434.2:c.3755G>C
  • NM_014733.6:c.3755G>C
  • NP_001098721.2:p.Gly1252Ala
  • NP_001271165.2:p.Gly1252Ala
  • NP_001336363.2:p.Gly1252Ala
  • NP_055548.4:p.Gly1252Ala
  • NC_000005.9:g.79752344G>C
  • NR_146172.2:n.4215G>C
  • NR_146173.2:n.3989G>C
  • NR_146174.2:n.4160G>C
Protein change:
G1252A
Links:
dbSNP: rs1561310640
NCBI 1000 Genomes Browser:
rs1561310640
Molecular consequence:
  • NM_001105251.4:c.3755G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284236.3:c.3755G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349434.2:c.3755G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014733.6:c.3755G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146172.2:n.4215G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146173.2:n.3989G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146174.2:n.4160G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dextrocardia
Identifiers:
MONDO: MONDO:0015661; MedGen: C0011813; Human Phenotype Ontology: HP:0001651

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778493Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Uncertain significance
(May 28, 2018) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000778493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

A rare variant in ZFYVE16 (p.G1252A) was identified in a single proband with situs anomaly. This gene has not been previously associated with human disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022