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NM_006019.4(TCIRG1):c.197-5C>T AND Autosomal recessive osteopetrosis 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 2020
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:
RCV001274549.1

Allele description [Variation Report for NM_006019.4(TCIRG1):c.197-5C>T]

NM_006019.4(TCIRG1):c.197-5C>T

Gene:
TCIRG1:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_006019.4(TCIRG1):c.197-5C>T
HGVS:
  • NC_000011.10:g.68042638C>T
  • NG_007878.1:g.8623C>T
  • NM_001351059.2:c.-1053-5C>T
  • NM_006019.4:c.197-5C>TMANE SELECT
  • LRG_115:g.8623C>T
  • NC_000011.9:g.67810105C>T
  • NM_006019.3:c.197-5C>T
Links:
dbSNP: rs183885218
NCBI 1000 Genomes Browser:
rs183885218
Molecular consequence:
  • NM_001351059.2:c.-1053-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006019.4:c.197-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Autosomal recessive osteopetrosis 1
Synonyms:
ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE; TCIRG1-Related Autosomal Recessive Osteopetrosis
Identifiers:
MONDO: MONDO:0009815; MedGen: C1850127; Orphanet: 667; OMIM: 259700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001458804Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 15, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001458804.1

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

Last Updated: May 16, 2025