NM_000388.4(CASR):c.611dup (p.Arg205fs) AND Familial hypocalciuric hypercalcemia 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 5, 2024
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:: RCV004515747.1

Allele description [Variation Report for NM_000388.4(CASR):c.611dup (p.Arg205fs)]

NM_000388.4(CASR):c.611dup (p.Arg205fs)

Gene:

CASR:calcium sensing receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q21.1

Genomic location:

Preferred name:

NM_000388.4(CASR):c.611dup (p.Arg205fs)

HGVS:

NC_000003.12:g.122261646dup
NG_009058.2:g.82979dup
NM_000388.4:c.611dupMANE SELECT
NM_001178065.2:c.611dup
NP_000379.3:p.Arg205fs
NP_001171536.2:p.Arg205fs
NC_000003.11:g.121980493dup

Protein change:

R205fs

Molecular consequence:

NM_000388.4:c.611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001178065.2:c.611dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Familial hypocalciuric hypercalcemia 1
Synonyms:: Hypercalcemia, familial benign type 1
Identifiers:: MONDO: MONDO:0007791; MedGen: C0342637; Orphanet: 405; Orphanet: 93372; OMIM: 145980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005013297	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (Strehlow et al. (Brain. 2019))	Likely pathogenic (Apr 5, 2024)	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

SCV005013297

Clinical Genetics and Genomics, Karolinska University Hospital

criteria provided, single submitter

(Strehlow et al. (Brain. 2019))

Likely pathogenic
(Apr 5, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; et al.

Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304.

PubMed [citation]

PMID:: 30544257
PMCID:: PMC6308310

Details of each submission

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV005013297.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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