NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) AND Cutis laxa, X-linked

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 14, 2021
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:: RCV001554147.10

Allele description [Variation Report for NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)]

NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)

Gene:

ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

Preferred name:

NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)

Other names:

p.V767L:GTT>CTT

HGVS:

NC_000023.11:g.78013005G>C
NG_013224.2:g.107309G>C
NM_000052.7:c.2299G>CMANE SELECT
NM_001282224.2:c.2172+1331G>C
NP_000043.4:p.Val767Leu
NC_000023.10:g.77268502G>C
NM_000052.4:c.2299G>C
NM_000052.5:c.2299G>C
NM_000052.6:c.2299G>C
NM_001282224.1:c.2172+1331G>C
NP_000043.3:p.Val767Leu
NP_000043.3:p.Val767Leu

Protein change:

V767L

Links:

dbSNP: rs2227291

NCBI 1000 Genomes Browser:

rs2227291

Molecular consequence:

NM_001282224.2:c.2172+1331G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000052.7:c.2299G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cutis laxa, X-linked (OHS)
Synonyms:: EDS IX; Occipital horn syndrome; Ehlers-Danlos syndrome, occipital horn type (formerly); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010572; MedGen: C0268353; Orphanet: 198; OMIM: 304150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001775331	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001775331

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 14, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Genome-Nilou Lab, SCV001775331.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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