NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 2, 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:: RCV002348009.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)]

NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)

Gene:

COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)

Other names:

p.Ile1245Phe

HGVS:

NC_000017.11:g.50186721T>A
NG_007400.1:g.19919A>T
NM_000088.4:c.3733A>TMANE SELECT
NP_000079.2:p.Ile1245Phe
NP_000079.2:p.Ile1245Phe
LRG_1t1:c.3733A>T
LRG_1:g.19919A>T
LRG_1p1:p.Ile1245Phe
NC_000017.10:g.48264082T>A
NM_000088.3:c.3733A>T

Protein change:

I1245F

Links:

dbSNP: rs199514372

NCBI 1000 Genomes Browser:

rs199514372

Molecular consequence:

NM_000088.4:c.3733A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002622523	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 2, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002622523

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 2, 2022)

germline

clinical testing

Citation Link

Help

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, SCV002622523.2

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

Description

The p.I1245F variant (also known as c.3733A>T), located in coding exon 48 of the COL1A1 gene, results from an A to T substitution at nucleotide position 3733. The isoleucine at codon 1245 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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: Sep 29, 2024

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