NC_000001.11:g.228149860A>G AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 2020
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:: RCV001781305.12

Allele description [Variation Report for NC_000001.11:g.228149860A>G]

NC_000001.11:g.228149860A>G

Gene:

GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

Preferred name:

NC_000001.11:g.228149860A>G

Other names:

167G>A; -7899A>G

HGVS:

NC_000001.11:g.228149860A>G
NG_011838.1:g.5009A>G
NM_020435.3:c.-167A>G
NC_000001.10:g.228337561A>G

Note:

NCBI staff reviewed the sequence information reported in PubMed 20695017 Fig. 2C to determine the location of this variant on the current reference sequence.

Nucleotide change:

-167A-G

Links:

OMIM: 608803.0011; dbSNP: rs587776888

NCBI 1000 Genomes Browser:

rs587776888

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Sphaerocionium pilosissimum chloroplast rbcL and accD genes for large subunit of...
Sphaerocionium pilosissimum chloroplast rbcL and accD genes for large subunit of ribulose-1,5-bisphosphate carboxylase/oxygenase and beta subunit of acetyl-coenzyme A carboxylase, complete and partial cds
gi|29467101|dbj|AB083287.1|

Nucleotide
DNA-damage-inducible transcript 4 [Rattus norvegicus]
DNA-damage-inducible transcript 4 [Rattus norvegicus]
gi|149038775|gb|EDL93064.1||gnl|WGS |rCP24701

Protein
GLAST320 pD
GLAST320 pD

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002024276	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 10, 2020)	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

SCV002024276

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 10, 2020)

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	unknown	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 Revvity Omics, Revvity, SCV002024276.3

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

Last Updated: Nov 10, 2024

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