NM_003859.3(DPM1):c.506A>G (p.Asn169Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 25, 2022
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:: RCV000153165.15

Allele description [Variation Report for NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)]

NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)

Genes:

ADNP-AS1:ADNP antisense RNA 1 [Gene - HGNC]
DPM1:dolichyl-phosphate mannosyltransferase subunit 1, catalytic [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.13

Genomic location:

Preferred name:

NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)

HGVS:

NC_000020.11:g.50940922T>C
NG_008923.1:g.22602A>G
NM_001317034.1:c.611A>G
NM_001317035.1:c.587A>G
NM_001317036.1:c.494+1109A>G
NM_003859.3:c.506A>GMANE SELECT
NP_001303963.1:p.Asn204Ser
NP_001303964.1:p.Asn196Ser
NP_003850.1:p.Asn169Ser
NP_003850.1:p.Asn169Ser
NC_000020.10:g.49557459T>C
NR_133648.2:n.537A>G

Protein change:

N169S

Links:

dbSNP: rs727503905

NCBI 1000 Genomes Browser:

rs727503905

Molecular consequence:

NM_001317036.1:c.494+1109A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001317034.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001317035.1:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003859.3:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_133648.2:n.537A>G - 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
SCV000202632	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Feb 27, 2014)	germline	clinical testing	Citation Link,
SCV005197767	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 25, 2022)	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

SCV000202632

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Feb 27, 2014)

germline

clinical testing

Citation Link,

SCV005197767

Clinical Genetics Laboratory, Skane University Hospital Lund

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 25, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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), SCV000202632.7

#	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 Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005197767.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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