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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PREDICTED: Rattus norvegicus fidgetin-like 1 (Fignl1), transcript variant X3, mR...
PREDICTED: Rattus norvegicus fidgetin-like 1 (Fignl1), transcript variant X3, mRNA
gi|2678894501|ref|XM_063272954.1|

Nucleotide
Rattus norvegicus fidgetin-like 1 (Fignl1), transcript variant 1, mRNA
Rattus norvegicus fidgetin-like 1 (Fignl1), transcript variant 1, mRNA
gi|2006873045|ref|NM_001393808.1|

Nucleotide
SAMN44480894 (1)
SRA
Campylobacter coli CVM N29710 plasmid pN29710-2, complete sequence
Campylobacter coli CVM N29710 plasmid pN29710-2, complete sequence
gi|540366978|gnl|FDACVM|plasmid2|gb 4068.1|

Nucleotide
Hand
Hand
The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.<br/>Year introduced: HAND DEFORMITIES was heading 1966-1970

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005130012	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 9, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005130012

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 9, 2024)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005130012.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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