ClinVar

NM_005228.5(EGFR):c.2976T>C (p.Pro992=)

Gene:

EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55201217 (on Assembly GRCh38)
• Chr7: 55268910 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2976T>C (p.Pro992=)

HGVS:

• NC_000007.14:g.55201217T>C
• NG_007726.3:g.187186T>C
• NM_001346897.2:c.2841T>C
• NM_001346898.2:c.2976T>C
• NM_001346899.2:c.2841T>C
• NM_001346900.2:c.2817T>C
• NM_001346941.2:c.2175T>C
• NM_005228.5:c.2976T>CMANE SELECT
• NP_001333826.1:p.Pro947=
• NP_001333827.1:p.Pro992=
• NP_001333828.1:p.Pro947=
• NP_001333829.1:p.Pro939=
• NP_001333870.1:p.Pro725=
• NP_005219.2:p.Pro992=
• NP_005219.2:p.Pro992=
• LRG_304t1:c.2976T>C
• LRG_304:g.187186T>C
• LRG_304p1:p.Pro992=
• NC_000007.13:g.55268910T>C
• NM_005228.3:c.2976T>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001346897.2:c.2841T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346898.2:c.2976T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346899.2:c.2841T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346900.2:c.2817T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346941.2:c.2175T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005228.5:c.2976T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1