U.S. flag

An official website of the United States government

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:
1

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000999915Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022