NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) AND Arterial calcification, generalized, of infancy, 2

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 5, 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:: RCV002253479.2

Allele description [Variation Report for NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)]

NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)

Gene:

ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

Preferred name:

NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)

HGVS:

NC_000016.10:g.16169805G>T
NG_007558.3:g.58813C>A
NM_001171.6:c.2836C>AMANE SELECT
NM_001351800.1:c.2494C>A
NP_001162.4:p.Leu946Ile
NP_001162.5:p.Leu946Ile
NP_001338729.1:p.Leu832Ile
LRG_1115t1:c.2836C>A
LRG_1115:g.58813C>A
LRG_1115p1:p.Leu946Ile
NC_000016.9:g.16263662G>T
NG_007558.2:g.58667C>A
NM_001171.5:c.2836C>A
NR_147784.1:n.2698C>A

Protein change:

L832I

Links:

dbSNP: rs61340537

NCBI 1000 Genomes Browser:

rs61340537

Molecular consequence:

NM_001171.6:c.2836C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351800.1:c.2494C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147784.1:n.2698C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Arterial calcification, generalized, of infancy, 2
Identifiers:: MONDO: MONDO:0013768; MedGen: C3276161; Orphanet: 51608; OMIM: 614473

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002524649	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Dec 5, 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

SCV002524649

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Dec 5, 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, SCV002524649.1

#	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: Oct 20, 2024

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