NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter) AND Silver-Russell syndrome 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000491113.2

Allele description [Variation Report for NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)]

NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)

Gene:

HMGA2:high mobility group AT-hook 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q14.3

Genomic location:

Preferred name:

NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)

HGVS:

NC_000012.12:g.65828082C>T
NG_016296.1:g.8623C>T
NM_001300918.1:c.193C>T
NM_001300919.1:c.193C>T
NM_001330190.1:c.193C>T
NM_003483.6:c.193C>TMANE SELECT
NM_003484.1:c.193C>T
NP_001287847.1:p.Gln65Ter
NP_001287848.1:p.Gln65Ter
NP_001317119.1:p.Gln65Ter
NP_003474.1:p.Gln65Ter
NP_003474.1:p.Gln65Ter
NP_003475.1:p.Gln65Ter
NC_000012.11:g.66221862C>T
NM_003483.4:c.193C>T

Protein change:

Q65*; GLN65TER

Links:

OMIM: 600698.0002; dbSNP: rs1114167319

NCBI 1000 Genomes Browser:

rs1114167319

Molecular consequence:

NM_001300918.1:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001300919.1:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330190.1:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003483.6:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003484.1:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Silver-Russell syndrome 1 (SRS1)
Identifiers:: MONDO: MONDO:0020796; MedGen: C5393125; Orphanet: 813; OMIM: 180860

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000297814	Centre de Recherche Saint Antoine, Université Pierre et Marie Curie - Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes Silver-Russell Syndrome	no assertion criteria provided	Pathogenic	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297814

Centre de Recherche Saint Antoine, Université Pierre et Marie Curie - Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes Silver-Russell Syndrome

no assertion criteria provided

Pathogenic

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Centre de Recherche Saint Antoine, Université Pierre et Marie Curie - Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes Silver-Russell Syndrome, SCV000297814.1

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

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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine