NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) AND COL1A1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004549897.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)]

NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)

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.4168C>T (p.Leu1390Phe)

HGVS:

NC_000017.11:g.50185858G>A
NG_007400.1:g.20782C>T
NM_000088.4:c.4168C>TMANE SELECT
NP_000079.2:p.Leu1390Phe
NP_000079.2:p.Leu1390Phe
LRG_1t1:c.4168C>T
LRG_1:g.20782C>T
LRG_1p1:p.Leu1390Phe
NC_000017.10:g.48263219G>A
NM_000088.3:c.4168C>T

Protein change:

L1390F

Links:

dbSNP: rs768808806

NCBI 1000 Genomes Browser:

rs768808806

Molecular consequence:

NM_000088.4:c.4168C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: COL1A1-related disorder
Synonyms:: COL1A1-related disease; COL1A1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004714603	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Feb 28, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004714603

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Feb 28, 2024)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004714603.2

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

Description

The COL1A1 c.4168C>T variant is predicted to result in the amino acid substitution p.Leu1390Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Nov 10, 2024

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