NM_004426.3(PHC1):c.2546A>G (p.Asn849Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 24, 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:: RCV004297194.1

Allele description [Variation Report for NM_004426.3(PHC1):c.2546A>G (p.Asn849Ser)]

NM_004426.3(PHC1):c.2546A>G (p.Asn849Ser)

Gene:

PHC1:polyhomeotic homolog 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_004426.3(PHC1):c.2546A>G (p.Asn849Ser)

HGVS:

NC_000012.12:g.8937244A>G
NG_042273.1:g.27525A>G
NM_001413738.1:c.2546A>G
NM_001413739.1:c.2540A>G
NM_001413740.1:c.2522A>G
NM_001413741.1:c.2435A>G
NM_001413742.1:c.2390A>G
NM_001413743.1:c.2390A>G
NM_001413744.1:c.2171A>G
NM_001413745.1:c.2123A>G
NM_001413746.1:c.2105A>G
NM_001413747.1:c.2027A>G
NM_001413748.1:c.2009A>G
NM_001413749.1:c.2009A>G
NM_001413750.1:c.2003A>G
NM_001413751.1:c.1985A>G
NM_001413752.1:c.1985A>G
NM_001413753.1:c.1877A>G
NM_001413754.1:c.1859A>G
NM_004426.3:c.2546A>GMANE SELECT
NP_001400667.1:p.Asn849Ser
NP_001400668.1:p.Asn847Ser
NP_001400669.1:p.Asn841Ser
NP_001400670.1:p.Asn812Ser
NP_001400671.1:p.Asn797Ser
NP_001400672.1:p.Asn797Ser
NP_001400673.1:p.Asn724Ser
NP_001400674.1:p.Asn708Ser
NP_001400675.1:p.Asn702Ser
NP_001400676.1:p.Asn676Ser
NP_001400677.1:p.Asn670Ser
NP_001400678.1:p.Asn670Ser
NP_001400679.1:p.Asn668Ser
NP_001400680.1:p.Asn662Ser
NP_001400681.1:p.Asn662Ser
NP_001400682.1:p.Asn626Ser
NP_001400683.1:p.Asn620Ser
NP_004417.2:p.Asn849Ser
NC_000012.11:g.9089840A>G
NM_004426.2:c.2546A>G
NR_182209.1:n.2702A>G

Protein change:

N620S

Molecular consequence:

NM_001413738.1:c.2546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413739.1:c.2540A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413740.1:c.2522A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413741.1:c.2435A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413742.1:c.2390A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413743.1:c.2390A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413744.1:c.2171A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413745.1:c.2123A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413746.1:c.2105A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413747.1:c.2027A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413748.1:c.2009A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413749.1:c.2009A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413750.1:c.2003A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413751.1:c.1985A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413752.1:c.1985A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413753.1:c.1877A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001413754.1:c.1859A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004426.3:c.2546A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_182209.1:n.2702A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003954643	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003954643

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 24, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003954643.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.2546A>G (p.N849S) alteration is located in exon 13 (coding exon 12) of the PHC1 gene. This alteration results from a A to G substitution at nucleotide position 2546, causing the asparagine (N) at amino acid position 849 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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