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NM_002653.5(PITX1):c.793G>T (p.Gly265Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002249788.1

Allele description [Variation Report for NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)]

NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)

Gene:
PITX1:paired like homeodomain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)
HGVS:
  • NC_000005.10:g.135028931C>A
  • NG_012114.1:g.10344G>T
  • NM_002653.5:c.793G>TMANE SELECT
  • NP_002644.4:p.Gly265Cys
  • NC_000005.9:g.134364621C>A
  • NM_002653.4:c.793G>T
Protein change:
G265C
Links:
dbSNP: rs141612135
NCBI 1000 Genomes Browser:
rs141612135
Molecular consequence:
  • NM_002653.5:c.793G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002519127Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Uncertain significance
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002519127.1

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

Last Updated: Jun 23, 2024