NM_002067.5(GNA11):c.95A>G (p.Asp32Gly) AND Familial hypocalciuric hypercalcemia 2

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000857316.1

Allele description [Variation Report for NM_002067.5(GNA11):c.95A>G (p.Asp32Gly)]

NM_002067.5(GNA11):c.95A>G (p.Asp32Gly)

Gene:

GNA11:G protein subunit alpha 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_002067.5(GNA11):c.95A>G (p.Asp32Gly)

HGVS:

NC_000019.10:g.3094746A>G
NG_033852.2:g.5337A>G
NM_002067.5:c.95A>GMANE SELECT
NP_002058.2:p.Asp32Gly
LRG_1111t1:c.95A>G
LRG_1111:g.5337A>G
LRG_1111p1:p.Asp32Gly
NC_000019.9:g.3094744A>G
NM_002067.4:c.95A>G

Protein change:

D32G

Links:

dbSNP: rs200234790

NCBI 1000 Genomes Browser:

rs200234790

Molecular consequence:

NM_002067.5:c.95A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Familial hypocalciuric hypercalcemia 2
Synonyms:: FAMILIAL BENIGN HYPERCALCEMIA, TYPE II; Familial benign hypercalcemia, type 2; Hypocalciuric hypercalcemia, familial, type II; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007792; MedGen: C1840347; Orphanet: 405; OMIM: 145981

Recent activity

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cerebral cavernous malformations 2 protein-like isoform X4 [Rattus norvegicus]
cerebral cavernous malformations 2 protein-like isoform X4 [Rattus norvegicus]
gi|1958767502|ref|XP_008760617.2|

Protein
Danio rerio fibroblast growth factor receptor 2 (fgfr2), transcript variant 4, m...
Danio rerio fibroblast growth factor receptor 2 (fgfr2), transcript variant 4, mRNA
gi|339895799|ref|NM_001243006.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000999915	Institute of Human Genetics, Cologne University	no assertion criteria provided	Uncertain significance	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000999915

Institute of Human Genetics, Cologne University

no assertion criteria provided

Uncertain significance

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000999915.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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