NM_032888.4(COL27A1):c.4643C>G (p.Pro1548Arg) AND Steel syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 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:: RCV003479546.1

Allele description [Variation Report for NM_032888.4(COL27A1):c.4643C>G (p.Pro1548Arg)]

NM_032888.4(COL27A1):c.4643C>G (p.Pro1548Arg)

Gene:

COL27A1:collagen type XXVII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q32

Genomic location:

Preferred name:

NM_032888.4(COL27A1):c.4643C>G (p.Pro1548Arg)

HGVS:

NC_000009.12:g.114300629C>G
NG_034260.1:g.150085C>G
NM_032888.4:c.4643C>GMANE SELECT
NP_116277.2:p.Pro1548Arg
NC_000009.11:g.117062909C>G

Protein change:

P1548R

Molecular consequence:

NM_032888.4:c.4643C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Steel syndrome (STLS)
Identifiers:: MONDO: MONDO:0014061; MedGen: C3554594; Orphanet: 438117; OMIM: 615155

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004218540	Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004218540

Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 1, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Intergen, Intergen Genetics and Rare Diseases Diagnosis Center, SCV004218540.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 6, 2024

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