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NM_138959.3(VANGL1):c.10G>A (p.Glu4Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2023
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:
RCV004480045.1

Allele description [Variation Report for NM_138959.3(VANGL1):c.10G>A (p.Glu4Lys)]

NM_138959.3(VANGL1):c.10G>A (p.Glu4Lys)

Gene:
VANGL1:VANGL planar cell polarity protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.1
Genomic location:
Preferred name:
NM_138959.3(VANGL1):c.10G>A (p.Glu4Lys)
HGVS:
  • NC_000001.11:g.115651423G>A
  • NG_016548.1:g.14471G>A
  • NG_075516.1:g.476G>A
  • NM_001172411.2:c.10G>A
  • NM_001172412.2:c.10G>A
  • NM_138959.3:c.10G>AMANE SELECT
  • NP_001165882.1:p.Glu4Lys
  • NP_001165883.1:p.Glu4Lys
  • NP_620409.1:p.Glu4Lys
  • NC_000001.10:g.116194044G>A
  • NM_138959.2:c.10G>A
Protein change:
E4K
Molecular consequence:
  • NM_001172411.2:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172412.2:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138959.3:c.10G>A - 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
SCV004977612Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 13, 2023) 		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, SCV004977612.1

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

Description

The c.10G>A (p.E4K) alteration is located in exon 2 (coding exon 1) of the VANGL1 gene. This alteration results from a G to A substitution at nucleotide position 10, causing the glutamic acid (E) at amino acid position 4 to be replaced by a lysine (K). 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: May 7, 2024