U.S. flag

An official website of the United States government

NM_018934.4(PCDHB14):c.1780G>A (p.Gly594Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 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:
RCV004183478.2

Allele description [Variation Report for NM_018934.4(PCDHB14):c.1780G>A (p.Gly594Ser)]

NM_018934.4(PCDHB14):c.1780G>A (p.Gly594Ser)

Genes:
PCDHB14:protocadherin beta 14 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_018934.4(PCDHB14):c.1780G>A (p.Gly594Ser)
HGVS:
  • NC_000005.10:g.141225285G>A
  • NG_000017.2:g.193410G>A
  • NM_018934.4:c.1780G>AMANE SELECT
  • NP_061757.1:p.Gly594Ser
  • NC_000005.9:g.140604857G>A
  • NM_018934.2:c.1780G>A
Protein change:
G594S
Molecular consequence:
  • NM_018934.4:c.1780G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On
  • Childhood Vascular Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries
    Childhood Vascular Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries
  • BRCA1-associated ATM activator 1 isoform 1 [Rattus norvegicus]
    BRCA1-associated ATM activator 1 isoform 1 [Rattus norvegicus]
    gi|2775958861|ref|NP_001418779.1|
    Protein
  • Mastocytosis, Systemic
    Mastocytosis, Systemic
    A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastroint...<br/>Year introduced: 2003
    MeSH
  • Osteoblastoma
    Osteoblastoma
    A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. It occurs frequently in the spine of young persons. (Fr...<br/>Year introduced: 1994
    MeSH
  • Mandibular Nerve Injuries
    Mandibular Nerve Injuries
    Traumatic injuries to the MANDIBULAR NERVE and its branches. Note that marginal mandibular nerve injury is a type of FACIAL NERVE INJURIES. Injuries to LINGUAL NERVE branch of...<br/>Year introduced: 2020
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003676522Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 23, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003676522.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1780G>A (p.G594S) alteration is located in exon 1 (coding exon 1) of the PCDHB14 gene. This alteration results from a G to A substitution at nucleotide position 1780, causing the glycine (G) at amino acid position 594 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024