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NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs) AND Autosomal recessive osteopetrosis 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 30, 2022
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:
RCV002309288.2

Allele description [Variation Report for NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)]

NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)

Gene:
TCIRG1:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)
HGVS:
  • NC_000011.10:g.68047664_68047665del
  • NG_007878.1:g.13649_13650del
  • NM_001351059.2:c.429_430del
  • NM_006019.4:c.1323_1324delMANE SELECT
  • NM_006053.4:c.675_676del
  • NP_001337988.1:p.Phe143fs
  • NP_006010.2:p.Phe441Leufs
  • NP_006010.2:p.Phe441fs
  • NP_006044.1:p.Phe225fs
  • LRG_115t1:c.1323_1324del
  • LRG_115:g.13649_13650del
  • LRG_115p1:p.Phe441Leufs
  • NC_000011.9:g.67815131_67815132del
  • NM_006019.2:c.1323_1324delCA
Protein change:
F143fs
Molecular consequence:
  • NM_001351059.2:c.429_430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006019.4:c.1323_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006053.4:c.675_676del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive osteopetrosis 1
Synonyms:
ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE; Osteopetrosis infantile malignant 1; Marble bones autosomal recessive
Identifiers:
MONDO: MONDO:0009815; MedGen: C1850127; Orphanet: 667; OMIM: 259700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603099Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 30, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002603099.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_006019.3(TCIRG1):c.1323_1324delCA(F441Lfs*48) is expected to be pathogenic in the context of autosomal recessive osteopetrosis type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TCIRG1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022