NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: May 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000710760.33

Allele description [Variation Report for NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)]

NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)

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.1803C>T (p.Pro601=)

HGVS:

NC_000017.11:g.50193012G>A
NG_007400.1:g.13628C>T
NM_000088.4:c.1803C>TMANE SELECT
NP_000079.2:p.Pro601=
NP_000079.2:p.Pro601=
LRG_1t1:c.1803C>T
LRG_1:g.13628C>T
LRG_1p1:p.Pro601=
NC_000017.10:g.48270373G>A
NM_000088.3:c.1803C>T

Links:

dbSNP: rs148275339

NCBI 1000 Genomes Browser:

rs148275339

Molecular consequence:

NM_000088.4:c.1803C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000841062	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (May 23, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18996919, 11090261, 26467025
SCV001158990	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 8, 2023)	germline	clinical testing	Citation Link,
SCV002498298	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (May 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000841062

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(May 23, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001158990

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 8, 2023)

germline

clinical testing

Citation Link,

SCV002498298

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(May 1, 2024)

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	yes	17	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE.

Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Epub 2008 Nov 7. Erratum in: Hum Mol Genet. 2009 May 15;18(10):1893-5.

PubMed [citation]

PMID:: 18996919
PMCID:: PMC2638801

Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta.

Mirandola S, Pignatti PF, Mottes M.

Mol Cell Probes. 2000 Dec;14(6):329-32.

PubMed [citation]

PMID:: 11090261

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000841062.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158990.5

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002498298.14

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	17	not provided	not provided	clinical testing	not provided

Description

COL1A1: BP4, BP7, BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		17	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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