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NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile) AND Autosomal recessive osteopetrosis 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 5, 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:
RCV001836292.1

Allele description [Variation Report for NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile)]

NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile)

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.1510G>A (p.Val504Ile)
HGVS:
  • NC_000011.10:g.68047928G>A
  • NG_007878.1:g.13913G>A
  • NM_001351059.2:c.616G>A
  • NM_006019.4:c.1510G>AMANE SELECT
  • NM_006053.4:c.862G>A
  • NP_001337988.1:p.Val206Ile
  • NP_006010.2:p.Val504Ile
  • NP_006044.1:p.Val288Ile
  • LRG_115:g.13913G>A
  • NC_000011.9:g.67815395G>A
Protein change:
V206I
Links:
dbSNP: rs755559179
NCBI 1000 Genomes Browser:
rs755559179
Molecular consequence:
  • NM_001351059.2:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006019.4:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006053.4:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094915Natera, Inc.
no assertion criteria provided
Uncertain significance
(Oct 5, 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., SCV002094915.1

#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: Sep 29, 2024