NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys) AND Structural heart defects and renal anomalies syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000989230.1

Allele description [Variation Report for NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)]

NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)

Gene:

TMEM260:transmembrane protein 260 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.3

Genomic location:

Preferred name:

NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)

HGVS:

NC_000014.9:g.56625394G>A
NM_017799.4:c.1411G>AMANE SELECT
NP_060269.3:p.Glu471Lys
NC_000014.8:g.57092112G>A
NM_017799.3:c.1411G>A

Protein change:

E471K

Links:

dbSNP: rs113277637

NCBI 1000 Genomes Browser:

rs113277637

Molecular consequence:

NM_017799.4:c.1411G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Structural heart defects and renal anomalies syndrome (SHDRA)
Identifiers:: MONDO: MONDO:0044321; MedGen: C4479549; OMIM: 617478

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001139465	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001139465

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001139465.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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