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NM_144698.5(ANKRD35):c.90G>C (p.Arg30Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 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:
RCV004419639.1

Allele description [Variation Report for NM_144698.5(ANKRD35):c.90G>C (p.Arg30Ser)]

NM_144698.5(ANKRD35):c.90G>C (p.Arg30Ser)

Gene:
ANKRD35:ankyrin repeat domain 35 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.1
Genomic location:
Preferred name:
NM_144698.5(ANKRD35):c.90G>C (p.Arg30Ser)
HGVS:
  • NC_000001.11:g.145879338C>G
  • NM_001280799.2:c.34-1350G>C
  • NM_144698.5:c.90G>CMANE SELECT
  • NP_653299.4:p.Arg30Ser
  • NC_000001.10:g.145555742G>C
  • NM_144698.3:c.90G>C
Protein change:
R30S
Molecular consequence:
  • NM_001280799.2:c.34-1350G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_144698.5:c.90G>C - 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
SCV004906309Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 30, 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, SCV004906309.1

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

Description

The c.90G>C (p.R30S) alteration is located in exon 2 (coding exon 2) of the ANKRD35 gene. This alteration results from a G to C substitution at nucleotide position 90, causing the arginine (R) at amino acid position 30 to be replaced by a serine (S). 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: May 7, 2024