NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 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:: RCV005409767.1

Allele description [Variation Report for NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)]

NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)

Gene:

PNKP:polynucleotide kinase 3'-phosphatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)

HGVS:

NC_000019.10:g.49861265G>A
NG_027717.1:g.11301C>T
NG_050666.1:g.17422G>A
NM_007254.4:c.1549C>TMANE SELECT
NP_009185.2:p.Gln517Ter
NC_000019.9:g.50364522G>A
NM_007254.2:c.1549C>T
NM_007254.3:c.1549C>T

Protein change:

Q517*; GLN517TER

Links:

OMIM: 605610.0009; dbSNP: rs774995635

Molecular consequence:

NM_007254.4:c.1549C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 2B2 (CMT2B2)
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B2; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011570; MedGen: C1854150; Orphanet: 101101; OMIM: 605589

Name:: Microcephaly, seizures, and developmental delay
Identifiers:: MONDO: MONDO:0013254; MedGen: C3150667; Orphanet: 1934; OMIM: 613402

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV006075136	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 13, 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

SCV006075136

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 13, 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	yes	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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV006075136.1

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

Description

PM2 BS2 PP5_supporting PVS1_moderate

#	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: Apr 12, 2026

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