U.S. flag

An official website of the United States government

NM_000546.6(TP53):c.978A>G (p.Glu326=) AND Acute myeloid leukemia

Germline classification:
Benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003326291.2

Allele description [Variation Report for NM_000546.6(TP53):c.978A>G (p.Glu326=)]

NM_000546.6(TP53):c.978A>G (p.Glu326=)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.978A>G (p.Glu326=)
HGVS:
  • NC_000017.11:g.7673550T>C
  • NG_017013.2:g.19001A>G
  • NM_000546.6:c.978A>GMANE SELECT
  • NM_001126112.3:c.978A>G
  • NM_001126113.3:c.978A>G
  • NM_001126114.3:c.978A>G
  • NM_001126115.2:c.582A>G
  • NM_001126116.2:c.582A>G
  • NM_001126117.2:c.582A>G
  • NM_001126118.2:c.861A>G
  • NM_001276695.3:c.861A>G
  • NM_001276696.3:c.861A>G
  • NM_001276697.3:c.501A>G
  • NM_001276698.3:c.501A>G
  • NM_001276699.3:c.501A>G
  • NM_001276760.3:c.861A>G
  • NM_001276761.3:c.861A>G
  • NM_001407262.1:c.978A>G
  • NM_001407263.1:c.861A>G
  • NM_001407264.1:c.978A>G
  • NM_001407265.1:c.861A>G
  • NM_001407266.1:c.978A>G
  • NM_001407267.1:c.861A>G
  • NM_001407268.1:c.978A>G
  • NM_001407269.1:c.861A>G
  • NM_001407270.1:c.978A>G
  • NM_001407271.1:c.861A>G
  • NP_000537.3:p.Glu326=
  • NP_000537.3:p.Glu326=
  • NP_001119584.1:p.Glu326=
  • NP_001119584.1:p.Glu326=
  • NP_001119585.1:p.Glu326=
  • NP_001119585.1:p.Glu326=
  • NP_001119586.1:p.Glu326=
  • NP_001119586.1:p.Glu326=
  • NP_001119587.1:p.Glu194=
  • NP_001119587.1:p.Glu194=
  • NP_001119588.1:p.Glu194=
  • NP_001119588.1:p.Glu194=
  • NP_001119589.1:p.Glu194=
  • NP_001119589.1:p.Glu194=
  • NP_001119590.1:p.Glu287=
  • NP_001119590.1:p.Glu287=
  • NP_001263624.1:p.Glu287=
  • NP_001263625.1:p.Glu287=
  • NP_001263626.1:p.Glu167=
  • NP_001263627.1:p.Glu167=
  • NP_001263628.1:p.Glu167=
  • NP_001263689.1:p.Glu287=
  • NP_001263690.1:p.Glu287=
  • NP_001394191.1:p.Glu326=
  • NP_001394192.1:p.Glu287=
  • NP_001394193.1:p.Glu326=
  • NP_001394194.1:p.Glu287=
  • NP_001394195.1:p.Glu326=
  • NP_001394196.1:p.Glu287=
  • NP_001394197.1:p.Glu326=
  • NP_001394198.1:p.Glu287=
  • NP_001394199.1:p.Glu326=
  • NP_001394200.1:p.Glu287=
  • LRG_321t1:c.978A>G
  • LRG_321t2:c.978A>G
  • LRG_321t3:c.978A>G
  • LRG_321t4:c.978A>G
  • LRG_321t5:c.582A>G
  • LRG_321t6:c.582A>G
  • LRG_321t7:c.582A>G
  • LRG_321t8:c.861A>G
  • LRG_321:g.19001A>G
  • LRG_321:p.Glu326=
  • LRG_321p1:p.Glu326=
  • LRG_321p3:p.Glu326=
  • LRG_321p4:p.Glu326=
  • LRG_321p5:p.Glu194=
  • LRG_321p6:p.Glu194=
  • LRG_321p7:p.Glu194=
  • LRG_321p8:p.Glu287=
  • NC_000017.10:g.7576868T>C
  • NM_000546.5:c.978A>G
  • NM_001126112.2:c.978A>G
  • NM_001126113.2:c.978A>G
  • NM_001126114.2:c.978A>G
  • NM_001126115.1:c.582A>G
  • NM_001126116.1:c.582A>G
  • NM_001126117.1:c.582A>G
  • NM_001126118.1:c.861A>G
  • NR_176326.1:n.1007A>G
Molecular consequence:
  • NR_176326.1:n.1007A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000546.6:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126112.3:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126113.3:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126114.3:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126115.2:c.582A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126116.2:c.582A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126117.2:c.582A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126118.2:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276695.3:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276696.3:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276697.3:c.501A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276698.3:c.501A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276699.3:c.501A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276760.3:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276761.3:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407262.1:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407263.1:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407264.1:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407265.1:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407266.1:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407267.1:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407268.1:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407269.1:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407270.1:c.978A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407271.1:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032444Ayesha Lab, University of the Punjab
no assertion criteria provided
Benignsomaticclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South Asiansomaticyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ayesha Lab, University of the Punjab, SCV004032444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Asiannot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2023