NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 25, 2023
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:: RCV003490144.2

Allele description [Variation Report for NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln)]

NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln)

Gene:

POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln)

HGVS:

NC_000009.12:g.131518904G>A
NG_008896.1:g.21003G>A
NM_001077365.2:c.1433G>AMANE SELECT
NM_001077366.2:c.1271G>A
NM_001136113.2:c.1433G>A
NM_001136114.2:c.1082G>A
NM_001353193.2:c.1499G>A
NM_001353194.2:c.1271G>A
NM_001353195.2:c.1082G>A
NM_001353196.2:c.1343G>A
NM_001353197.2:c.1337G>A
NM_001353198.2:c.1337G>A
NM_001353199.2:c.1148G>A
NM_001353200.2:c.977G>A
NM_001374689.1:c.1421G>A
NM_001374690.1:c.1365+367G>A
NM_001374691.1:c.1082G>A
NM_001374692.1:c.1082G>A
NM_001374693.1:c.1082G>A
NM_001374695.1:c.1043G>A
NM_007171.4:c.1499G>A
NP_001070833.1:p.Arg478Gln
NP_001070834.1:p.Arg424Gln
NP_001129585.1:p.Arg478Gln
NP_001129586.1:p.Arg361Gln
NP_001340122.2:p.Arg500Gln
NP_001340123.1:p.Arg424Gln
NP_001340124.1:p.Arg361Gln
NP_001340125.1:p.Arg448Gln
NP_001340126.2:p.Arg446Gln
NP_001340127.2:p.Arg446Gln
NP_001340128.2:p.Arg383Gln
NP_001340129.1:p.Arg326Gln
NP_001361618.1:p.Arg474Gln
NP_001361620.1:p.Arg361Gln
NP_001361621.1:p.Arg361Gln
NP_001361622.1:p.Arg361Gln
NP_001361624.1:p.Arg348Gln
NP_009102.4:p.Arg500Gln
LRG_842t1:c.1499G>A
LRG_842t2:c.1433G>A
LRG_842p1:p.Arg500Gln
LRG_842p2:p.Arg478Gln
NC_000009.11:g.134394291G>A
NM_007171.3:c.1499G>A
NR_148391.2:n.1467G>A
NR_148392.2:n.1685G>A
NR_148393.2:n.1606G>A
NR_148394.2:n.1360G>A
NR_148395.2:n.1758G>A
NR_148396.2:n.1392G>A
NR_148397.2:n.1517G>A
NR_148398.2:n.1472G>A
NR_148399.2:n.1998G>A
NR_148400.2:n.1597G>A

Protein change:

R326Q

Links:

dbSNP: rs1386572159

NCBI 1000 Genomes Browser:

rs1386572159

Molecular consequence:

NM_001374690.1:c.1365+367G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001077365.2:c.1433G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001077366.2:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001136113.2:c.1433G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001136114.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353193.2:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353194.2:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353195.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353196.2:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353197.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353198.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353199.2:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353200.2:c.977G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374689.1:c.1421G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374691.1:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374692.1:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374693.1:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374695.1:c.1043G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007171.4:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148391.2:n.1467G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148392.2:n.1685G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148393.2:n.1606G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148394.2:n.1360G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148395.2:n.1758G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148396.2:n.1392G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148397.2:n.1517G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148398.2:n.1472G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148399.2:n.1998G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148400.2:n.1597G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Pectobacterium
Pectobacterium
Pectobacterium carotovorum and Pectobacterium brasiliense Genome sequencing and assembly

BioProject
Pectobacterium carotovorum subsp. carotovorum
Pectobacterium carotovorum subsp. carotovorum
Whole-genome sequencing of Pectobacterium carotovorum subsp. carotovorum

BioProject
Chromosome neighbors for GEO Profiles (Select 91632043) (20)
GEO Profiles
Profile neighbors for GEO Profiles (Select 91653259) (199)
GEO Profiles
Concise Conserved Domain Links for Protein (Select 242090625) (1)
Conserved Domains

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
SCV004236456	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 25, 2023)	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

SCV004236456

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 25, 2023)

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	unknown	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 Revvity Omics, Revvity, SCV004236456.1

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine