NM_006885.4(ZFHX3):c.146C>T (p.Pro49Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 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:
RCV004686412.1

Allele description [Variation Report for NM_006885.4(ZFHX3):c.146C>T (p.Pro49Leu)]

NM_006885.4(ZFHX3):c.146C>T (p.Pro49Leu)

Gene:
ZFHX3:zinc finger homeobox 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.3
Genomic location:
Preferred name:
NM_006885.4(ZFHX3):c.146C>T (p.Pro49Leu)
HGVS:
  • NC_000016.10:g.72960000G>A
  • NG_013211.2:g.936932C>T
  • NM_001164766.2:c.-23-9035C>T
  • NM_001386735.1:c.146C>T
  • NM_006885.4:c.146C>TMANE SELECT
  • NP_001373664.1:p.Pro49Leu
  • NP_008816.3:p.Pro49Leu
  • NC_000016.9:g.72993899G>A
  • NM_006885.3:c.146C>T
Protein change:
P49L
Molecular consequence:
  • NM_001164766.2:c.-23-9035C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386735.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006885.4:c.146C>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
SCV005183961Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 5, 2024) 		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 Ambry Genetics, SCV005183961.1

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

Description

The c.146C>T (p.P49L) alteration is located in exon 2 (coding exon 1) of the ZFHX3 gene. This alteration results from a C to T substitution at nucleotide position 146, causing the proline (P) at amino acid position 49 to be replaced by a leucine (L). 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: Aug 11, 2024