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NM_001130144.3(LTBP3):c.1239C>T (p.His413=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 5, 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:
RCV002370795.2

Allele description [Variation Report for NM_001130144.3(LTBP3):c.1239C>T (p.His413=)]

NM_001130144.3(LTBP3):c.1239C>T (p.His413=)

Gene:
LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001130144.3(LTBP3):c.1239C>T (p.His413=)
HGVS:
  • NC_000011.10:g.65552354G>A
  • NG_016437.1:g.10875C>T
  • NG_122939.1:g.309G>A
  • NM_001130144.3:c.1239C>TMANE SELECT
  • NM_001164266.1:c.888C>T
  • NM_021070.4:c.1239C>T
  • NP_001123616.1:p.His413=
  • NP_001157738.1:p.His296=
  • NP_066548.2:p.His413=
  • NC_000011.9:g.65319825G>A
  • NM_001130144.2:c.1239C>T
Molecular consequence:
  • NM_001130144.3:c.1239C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164266.1:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021070.4:c.1239C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002670158Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 5, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002670158.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024