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NM_004752.4(GCM2):c.513AAG[1] (p.Arg172del) AND Hypoparathyroidism, familial isolated, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 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:
RCV004555234.2

Allele description [Variation Report for NM_004752.4(GCM2):c.513AAG[1] (p.Arg172del)]

NM_004752.4(GCM2):c.513AAG[1] (p.Arg172del)

Gene:
GCM2:glial cells missing transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6p24.2
Genomic location:
Preferred name:
NM_004752.4(GCM2):c.513AAG[1] (p.Arg172del)
HGVS:
  • NC_000006.12:g.10875957TCT[1]
  • NG_008970.1:g.10906AAG[1]
  • NM_004752.4:c.513AAG[1]MANE SELECT
  • NP_004743.1:p.Arg172del
  • NC_000006.11:g.10876190TCT[1]
Protein change:
R172del
Molecular consequence:
  • NM_004752.4:c.513AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Hypoparathyroidism, familial isolated, 2
Identifiers:
MONDO: MONDO:0020798; MedGen: C5394383; OMIM: 618883

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005044207MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Uncertain significance
(Mar 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044207.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PM2_SUP,PM4_SUP,PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024