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NM_002449.5(MSX2):c.380-164G>A AND Parietal foramina 1

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000987634.1

Allele description [Variation Report for NM_002449.5(MSX2):c.380-164G>A]

NM_002449.5(MSX2):c.380-164G>A

Gene:
MSX2:msh homeobox 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.2
Genomic location:
Preferred name:
NM_002449.5(MSX2):c.380-164G>A
HGVS:
  • NC_000005.10:g.174728995G>A
  • NG_008124.1:g.9424G>A
  • NM_001363626.2:c.*4-164G>A
  • NM_002449.5:c.380-164G>AMANE SELECT
  • NC_000005.9:g.174155998G>A
Links:
dbSNP: rs4867776
NCBI 1000 Genomes Browser:
rs4867776
Molecular consequence:
  • NM_001363626.2:c.*4-164G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002449.5:c.380-164G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Parietal foramina 1 (PFM1)
Synonyms:
PARIETAL FORAMINA, SYMMETRIC; FORAMINA PARIETALIA PERMAGNA
Identifiers:
MONDO: MONDO:0008197; MedGen: C1868599; Orphanet: 60015; OMIM: 168500

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137027Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137027.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023