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NM_003701.4(TNFSF11):c.929del (p.Ala310fs) AND Autosomal recessive osteopetrosis 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 20, 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:
RCV002247768.1

Allele description [Variation Report for NM_003701.4(TNFSF11):c.929del (p.Ala310fs)]

NM_003701.4(TNFSF11):c.929del (p.Ala310fs)

Gene:
TNFSF11:TNF superfamily member 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.11
Genomic location:
Preferred name:
NM_003701.4(TNFSF11):c.929del (p.Ala310fs)
HGVS:
  • NC_000013.11:g.42606893del
  • NG_008990.1:g.49158del
  • NM_003701.4:c.929delMANE SELECT
  • NM_033012.4:c.710del
  • NP_003692.1:p.Ala310fs
  • NP_143026.1:p.Ala237fs
  • NC_000013.10:g.43181029del
  • NM_003701.4:c.929delCMANE SELECT
Protein change:
A237fs
Links:
dbSNP: rs2137916719
NCBI 1000 Genomes Browser:
rs2137916719
Molecular consequence:
  • NM_003701.4:c.929del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033012.4:c.710del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Autosomal recessive osteopetrosis 2
Synonyms:
OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM; Osteopetrosis osteoclast-poor
Identifiers:
MONDO: MONDO:0009816; MedGen: C1850126; Orphanet: 667; OMIM: 259710

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516038Molecular Lab, Department of Haematology, Christian Medical College
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 20, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Lab, Department of Haematology, Christian Medical College, SCV002516038.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023