NM_012463.4(ATP6V0A2):c.731+12A>G AND ALG9 congenital disorder of glycosylation

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 5, 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:: RCV003609918.2

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.731+12A>G]

NM_012463.4(ATP6V0A2):c.731+12A>G

Gene:

ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_012463.4(ATP6V0A2):c.731+12A>G

HGVS:

NC_000012.12:g.123734020A>G
NG_012743.1:g.26703A>G
NM_012463.4:c.731+12A>GMANE SELECT
NC_000012.11:g.124218567A>G

Molecular consequence:

NM_012463.4:c.731+12A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: ALG9 congenital disorder of glycosylation (CDG1L)
Synonyms:: CDG Il; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG 1L; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012117; MedGen: C2931006; Orphanet: 79328; OMIM: 608776

Recent activity

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urotensin II-related peptide [Rattus norvegicus]
urotensin II-related peptide [Rattus norvegicus]
gi|37591035|dbj|BAC98927.1|

Protein
urotensin II-related peptide [Mus musculus]
urotensin II-related peptide [Mus musculus]
gi|37591037|dbj|BAC98928.1|

Protein
Sulawesidrobia kerajaan isolate 192426xB 16S ribosomal RNA gene, partial sequenc...
Sulawesidrobia kerajaan isolate 192426xB 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|313758326|gb|HM587407.1|

Nucleotide
RecName: Full=Urotensin-2B; AltName: Full=Urotensin II-related peptide; AltName:...
RecName: Full=Urotensin-2B; AltName: Full=Urotensin II-related peptide; AltName: Full=Urotensin IIB; Short=U-IIB; Short=UIIB; AltName: Full=Urotensin-2 domain-containing protein; Flags: Precursor
gi|55976638|sp|Q765I2.1|UTS2B_RAT

Protein
Faculty
Faculty
TEACHING and administrative staff having academic rank in a post-secondary educational institution.<br/>Year introduced: 1968

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004552951	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Sep 5, 2023)	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

SCV004552951

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Sep 5, 2023)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004552951.1

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

Last Updated: Sep 29, 2024

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