NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly) AND Aganglionic megacolon

Germline classification:: Likely 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:: RCV000736042.1

Allele description [Variation Report for NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)]

NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)

Gene:

PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p13

Genomic location:

Preferred name:

NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)

HGVS:

NC_000004.12:g.41746307G>C
NG_008243.1:g.7664C>G
NM_003924.4:c.445C>GMANE SELECT
NP_003915.2:p.Arg149Gly
LRG_513:g.7664C>G
NC_000004.11:g.41748324G>C

Protein change:

R149G

Links:

dbSNP: rs1560465785

NCBI 1000 Genomes Browser:

rs1560465785

Molecular consequence:

NM_003924.4:c.445C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Aganglionic megacolon (HSCR)
Synonyms:: Hirschsprung's disease; Hirschsprung disease
Identifiers:: MONDO: MONDO:0018309; MeSH: D006627; MedGen: C0019569; Orphanet: 388; OMIM: PS142623; Human Phenotype Ontology: HP:0002251

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
SCV000845742	Human Genomics Unit, Institute for molecular medicine Finland (FIMM)	no assertion criteria provided	Likely pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000845742

Human Genomics Unit, Institute for molecular medicine Finland (FIMM)

no assertion criteria provided

Likely pathogenic

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Human Genomics Unit, Institute for molecular medicine Finland (FIMM), SCV000845742.1

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

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine