NM_001323342.2(AHCTF1):c.5173A>C (p.Thr1725Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 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:
RCV004622992.1

Allele description [Variation Report for NM_001323342.2(AHCTF1):c.5173A>C (p.Thr1725Pro)]

NM_001323342.2(AHCTF1):c.5173A>C (p.Thr1725Pro)

Gene:
AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_001323342.2(AHCTF1):c.5173A>C (p.Thr1725Pro)
HGVS:
  • NC_000001.11:g.246850833T>G
  • NM_001323342.2:c.5173A>CMANE SELECT
  • NM_001323343.2:c.5173A>C
  • NM_001410950.1:c.5278A>C
  • NM_015446.5:c.5200A>C
  • NP_001310271.1:p.Thr1725Pro
  • NP_001310272.1:p.Thr1725Pro
  • NP_001397879.1:p.Thr1760Pro
  • NP_056261.4:p.Thr1734Pro
  • NC_000001.10:g.247014135T>G
  • NM_015446.4:c.5200A>C
  • NR_136586.2:n.5685A>C
Protein change:
T1725P
Molecular consequence:
  • NM_001323342.2:c.5173A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323343.2:c.5173A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410950.1:c.5278A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015446.5:c.5200A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136586.2:n.5685A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005120117Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 22, 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, SCV005120117.1

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

Description

The c.5200A>C (p.T1734P) alteration is located in exon 33 (coding exon 33) of the AHCTF1 gene. This alteration results from a A to C substitution at nucleotide position 5200, causing the threonine (T) at amino acid position 1734 to be replaced by a proline (P). 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