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NM_001130144.3(LTBP3):c.2337C>G (p.Asp779Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 9, 2024
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:
RCV004640235.1

Allele description [Variation Report for NM_001130144.3(LTBP3):c.2337C>G (p.Asp779Glu)]

NM_001130144.3(LTBP3):c.2337C>G (p.Asp779Glu)

Genes:
LOC130006029:ATAC-STARR-seq lymphoblastoid silent region 3532 [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.2337C>G (p.Asp779Glu)
HGVS:
  • NC_000011.10:g.65546458G>C
  • NG_016437.1:g.16771C>G
  • NG_185474.1:g.248G>C
  • NM_001130144.3:c.2337C>GMANE SELECT
  • NM_001164266.1:c.1986C>G
  • NM_021070.4:c.2337C>G
  • NP_001123616.1:p.Asp779Glu
  • NP_001157738.1:p.Asp662Glu
  • NP_066548.2:p.Asp779Glu
  • NC_000011.9:g.65313929G>C
  • NM_001130144.2:c.2337C>G
Protein change:
D662E
Molecular consequence:
  • NM_001130144.3:c.2337C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164266.1:c.1986C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021070.4:c.2337C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005130012Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 9, 2024) 		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, SCV005130012.1

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

Description

The c.2337C>G (p.D779E) alteration is located in exon 16 (coding exon 16) of the LTBP3 gene. This alteration results from a C to G substitution at nucleotide position 2337, causing the aspartic acid (D) at amino acid position 779 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024