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NM_001378068.1(ANKAR):c.3948T>G (p.Ile1316Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 2023
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:
RCV004360016.1

Allele description [Variation Report for NM_001378068.1(ANKAR):c.3948T>G (p.Ile1316Met)]

NM_001378068.1(ANKAR):c.3948T>G (p.Ile1316Met)

Gene:
ANKAR:ankyrin and armadillo repeat containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_001378068.1(ANKAR):c.3948T>G (p.Ile1316Met)
HGVS:
  • NC_000002.12:g.189743412T>G
  • NM_001378068.1:c.3948T>GMANE SELECT
  • NM_144708.3:c.3948T>G
  • NP_001364997.1:p.Ile1316Met
  • NP_653309.3:p.Ile1316Met
  • NC_000002.11:g.190608138T>G
Protein change:
I1316M
Molecular consequence:
  • NM_001378068.1:c.3948T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144708.3:c.3948T>G - 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
SCV004093264Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 21, 2023) 		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, SCV004093264.2

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

Description

The c.3948T>G (p.I1316M) alteration is located in exon 21 (coding exon 20) of the ANKAR gene. This alteration results from a T to G substitution at nucleotide position 3948, causing the isoleucine (I) at amino acid position 1316 to be replaced by a methionine (M). 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