NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del) AND Paroxysmal nonkinesigenic dyskinesia

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 26, 2024
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:: RCV000858579.9

Allele description [Variation Report for NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)]

NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)

Genes:

CATIP-AS2:CATIP antisense RNA 2 [Gene - HGNC]
PNKD:PNKD metallo-beta-lactamase domain containing [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)

HGVS:

NC_000002.12:g.218344963_218344968del
NG_017060.1:g.79572_79577del
NM_015488.4:c.1140_1145del6
NM_015488.5:c.1140_1145delMANE SELECT
NM_022572.4:c.1068_1073del
NP_056303.3:p.Met381_His382del
NP_072094.1:p.Met357_His358del
NC_000002.11:g.219209685_219209690del
NC_000002.11:g.219209686_219209691del
NM_015488.4:c.1140_1145del
NM_015488.4:c.1140_1145delTATGCA

Links:

dbSNP: rs576363906

NCBI 1000 Genomes Browser:

rs576363906

Molecular consequence:

NM_015488.5:c.1140_1145del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_022572.4:c.1068_1073del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Paroxysmal nonkinesigenic dyskinesia
Synonyms:: Paroxysmal non-kinesigenic dyskinesia
Identifiers:: MONDO: MONDO:0700088; MedGen: C1869117; Orphanet: 98810

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000645439	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 26, 2024)	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

SCV000645439

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 26, 2024)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000645439.8

#	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: Nov 10, 2024

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