NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His) AND Pontocerebellar hypoplasia type 9

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 2, 2017
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:: RCV001785327.1

Allele description [Variation Report for NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)]

NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)

Gene:

AMPD2:adenosine monophosphate deaminase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

Preferred name:

NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)

HGVS:

NC_000001.11:g.109631040G>A
NG_034075.1:g.16228G>A
NG_091797.1:g.694G>A
NM_001257360.1:c.2528G>A
NM_001257361.2:c.2174G>A
NM_001308170.1:c.2303G>A
NM_001368809.2:c.2366G>AMANE SELECT
NM_004037.9:c.2366G>A
NM_139156.4:c.2285G>A
NP_001244290.1:p.Arg725His
NP_001295099.1:p.Arg768His
NP_001355738.1:p.Arg789His
NP_004028.4:p.Arg789His
NP_631895.1:p.Arg762His
NC_000001.10:g.110173662G>A

Protein change:

R725H

Links:

dbSNP: rs774256040

NCBI 1000 Genomes Browser:

rs774256040

Molecular consequence:

NM_001257361.2:c.2174G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001308170.1:c.2303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368809.2:c.2366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004037.9:c.2366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139156.4:c.2285G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pontocerebellar hypoplasia type 9
Identifiers:: MONDO: MONDO:0014351; MedGen: C4014354; Orphanet: 369920; OMIM: 615809

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
SCV002026318	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 2, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29463858, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002026318

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 2, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.

PubMed [citation]

PMID:: 29463858
PMCID:: PMC5945775

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002026318.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine