NM_003240.4(LEFTY2):c.857C>T (p.Pro286Leu) AND Left-right axis malformations

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 5, 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:: RCV000467952.1

Allele description

NM_003240.4(LEFTY2):c.857C>T (p.Pro286Leu)

Gene:

LEFTY2:left-right determination factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.12

Genomic location:

Preferred name:

NM_003240.4(LEFTY2):c.857C>T (p.Pro286Leu)

Other names:

p.P286L:CCG>CTG

HGVS:

NC_000001.11:g.225937685G>A
NG_008118.1:g.8536C>T
NM_003240.4:c.857C>T
NP_003231.2:p.Pro286Leu
NC_000001.10:g.226125385G>A
NM_003240.3:c.857C>T
O00292:p.Pro286Leu

Protein change:

P286L

Links:

UniProtKB: O00292#VAR_021981; dbSNP: rs2295418

GMAF:

0.0511(A), 2295418

NCBI 1000 Genomes Browser:

rs2295418

Allele Frequency:

0.04235(A)

Molecular consequence:

NM_003240.4:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Left-right axis malformations
Identifiers:: MedGen: C1866091

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000557531	Invitae,	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 5, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000557531

Invitae,

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 5, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Invitae,, SCV000557531.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2017

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