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NM_153706.4(SETD9):c.704A>G (p.Asn235Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 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:
RCV004455584.1

Allele description [Variation Report for NM_153706.4(SETD9):c.704A>G (p.Asn235Ser)]

NM_153706.4(SETD9):c.704A>G (p.Asn235Ser)

Gene:
SETD9:SET domain containing 9 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q11.2
Genomic location:
Preferred name:
NM_153706.4(SETD9):c.704A>G (p.Asn235Ser)
HGVS:
  • NC_000005.10:g.56913987A>G
  • NM_001171990.3:c.704A>G
  • NM_001323018.2:c.626A>G
  • NM_001323019.2:c.704A>G
  • NM_001323020.2:c.626A>G
  • NM_001323022.1:c.248A>G
  • NM_153706.4:c.704A>GMANE SELECT
  • NP_001165461.1:p.Asn235Ser
  • NP_001309947.1:p.Asn209Ser
  • NP_001309948.1:p.Asn235Ser
  • NP_001309949.1:p.Asn209Ser
  • NP_001309951.1:p.Asn83Ser
  • NP_714917.2:p.Asn235Ser
  • NC_000005.9:g.56209814A>G
  • NM_153706.3:c.704A>G
  • NR_136555.2:n.386A>G
  • NR_136556.2:n.386A>G
  • NR_136557.1:n.571A>G
  • NR_136558.2:n.386A>G
Protein change:
N209S
Molecular consequence:
  • NM_001171990.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323018.2:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323019.2:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323020.2:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323022.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153706.4:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136555.2:n.386A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136556.2:n.386A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136557.1:n.571A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136558.2:n.386A>G - 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
SCV004948651Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 1, 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, SCV004948651.1

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

Description

The c.704A>G (p.N235S) alteration is located in exon 4 (coding exon 4) of the SETD9 gene. This alteration results from a A to G substitution at nucleotide position 704, causing the asparagine (N) at amino acid position 235 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