NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 3, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000265145.7

Allele description [Variation Report for NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe)]

NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe)

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.424A>T (p.Ile142Phe)

HGVS:

NC_000009.12:g.131507511A>T
NG_008896.1:g.9610A>T
NM_001077365.2:c.424A>TMANE SELECT
NM_001077366.2:c.262A>T
NM_001136113.2:c.424A>T
NM_001136114.2:c.73A>T
NM_001353193.2:c.424A>T
NM_001353194.2:c.262A>T
NM_001353195.2:c.73A>T
NM_001353196.2:c.334A>T
NM_001353197.2:c.262A>T
NM_001353198.2:c.262A>T
NM_001353199.2:c.73A>T
NM_001353200.2:c.-30+1058A>T
NM_001374689.1:c.262A>T
NM_001374690.1:c.424A>T
NM_001374691.1:c.73A>T
NM_001374692.1:c.73A>T
NM_001374693.1:c.262A>T
NM_001374695.1:c.-29-1400A>T
NM_007171.4:c.424A>T
NP_001070833.1:p.Ile142Phe
NP_001070834.1:p.Ile88Phe
NP_001129585.1:p.Ile142Phe
NP_001129586.1:p.Ile25Phe
NP_001340122.2:p.Ile142Phe
NP_001340123.1:p.Ile88Phe
NP_001340124.1:p.Ile25Phe
NP_001340125.1:p.Ile112Phe
NP_001340126.2:p.Ile88Phe
NP_001340127.2:p.Ile88Phe
NP_001340128.2:p.Ile25Phe
NP_001361618.1:p.Ile88Phe
NP_001361619.1:p.Ile142Phe
NP_001361620.1:p.Ile25Phe
NP_001361621.1:p.Ile25Phe
NP_001361622.1:p.Ile88Phe
NP_009102.3:p.Ile142Phe
NP_009102.4:p.Ile142Phe
LRG_842t1:c.424A>T
LRG_842t2:c.424A>T
LRG_842p1:p.Ile142Phe
LRG_842p2:p.Ile142Phe
NC_000009.11:g.134382898A>T
NM_007171.3:c.424A>T
NR_148391.2:n.458A>T
NR_148392.2:n.610A>T
NR_148393.2:n.458A>T
NR_148394.2:n.458A>T
NR_148395.2:n.610A>T
NR_148396.2:n.351A>T
NR_148397.2:n.503A>T
NR_148398.2:n.458A>T
NR_148399.2:n.850A>T

Protein change:

I112F

Links:

dbSNP: rs141833028

NCBI 1000 Genomes Browser:

rs141833028

Molecular consequence:

NM_001353200.2:c.-30+1058A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001374695.1:c.-29-1400A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001077365.2:c.424A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001077366.2:c.262A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001136113.2:c.424A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001136114.2:c.73A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353193.2:c.424A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353194.2:c.262A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353195.2:c.73A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353196.2:c.334A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353197.2:c.262A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353198.2:c.262A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353199.2:c.73A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374689.1:c.262A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374690.1:c.424A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374691.1:c.73A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374692.1:c.73A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374693.1:c.262A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007171.4:c.424A>T - missense variant - [Sequence Ontology: SO:0001583]
NR_148391.2:n.458A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148392.2:n.610A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148393.2:n.458A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148394.2:n.458A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148395.2:n.610A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148396.2:n.351A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148397.2:n.503A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148398.2:n.458A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148399.2:n.850A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000337694	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Dec 4, 2015)	germline	clinical testing	Citation Link,
SCV003811839	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 3, 2020)	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

SCV000337694

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Dec 4, 2015)

germline

clinical testing

Citation Link,

SCV003811839

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 3, 2020)

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	1	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 Eurofins Ntd Llc (ga), SCV000337694.4

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

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003811839.2

#	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: Mar 30, 2024

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