NM_005450.6(NOG):c.101G>C (p.Arg34Pro) AND Proximal symphalangism 1A

Germline classification:: Uncertain significance (1 submission)
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:: RCV003316897.1

Allele description [Variation Report for NM_005450.6(NOG):c.101G>C (p.Arg34Pro)]

NM_005450.6(NOG):c.101G>C (p.Arg34Pro)

Gene:

NOG:noggin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_005450.6(NOG):c.101G>C (p.Arg34Pro)

HGVS:

NC_000017.11:g.56594324G>C
NG_011958.1:g.5626G>C
NM_005450.6:c.101G>CMANE SELECT
NP_005441.1:p.Arg34Pro
NC_000017.10:g.54671685G>C

Protein change:

R34P

Molecular consequence:

NM_005450.6:c.101G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Proximal symphalangism 1A
Identifiers:: MONDO: MONDO:0020733; MedGen: C3714899; Orphanet: 3250; OMIM: 185800

Recent activity

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protransforming growth factor alpha isoform X1 [Mus musculus]
protransforming growth factor alpha isoform X1 [Mus musculus]
gi|1720417614|ref|XP_030111172.1|

Protein
Mus musculus ubiquitin-conjugating enzyme E2G 1 (Ube2g1), mRNA
Mus musculus ubiquitin-conjugating enzyme E2G 1 (Ube2g1), mRNA
gi|115292440|ref|NM_025985.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004015136	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	paternal	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

SCV004015136

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

paternal

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	paternal	yes	not provided	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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV004015136.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	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	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2023

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